esv2678880

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:28
Validation:Yes
Clinical Assertions: No
Region Size:16,403

Description:High quality site
Publication(s):1000 Genomes Project Consortium et al. 2012

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 252 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):24,586,531-24,602,933

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2678880	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
esv2678880	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	25,160,669	25,177,071

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5397175	deletion	SAMN00001173	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,274
essv5474514	deletion	SAMN00000477	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,250
essv5531252	deletion	SAMN00001577	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,401
essv5533270	deletion	SAMN00001678	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,467
essv5677827	deletion	SAMN00000575	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	989
essv5728686	deletion	SAMN00001125	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,568
essv5729686	deletion	SAMN00000572	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,233
essv5780533	deletion	SAMN00001133	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,480
essv5827525	deletion	SAMN00001119	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	912
essv5907263	deletion	SAMN00001157	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,813
essv5928249	deletion	SAMN00004417	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,314
essv5969453	deletion	SAMN00007823	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,287
essv5978046	deletion	SAMN00001182	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,509
essv5992619	deletion	SAMN00001588	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,394
essv6025047	deletion	SAMN00001583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,451
essv6096438	deletion	SAMN00001685	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,589
essv6233714	deletion	SAMN00001122	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,437
essv6261245	deletion	SAMN00007868	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	904
essv6268026	deletion	SAMN00001624	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,608
essv6291812	deletion	SAMN00001101	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,545
essv6322175	deletion	SAMN00001629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv6324311	deletion	SAMN00014396	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	814
essv6336007	deletion	SAMN00001149	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,599
essv6351923	deletion	SAMN00007740	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,557
essv6432360	deletion	SAMN00001586	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,356
essv6469600	deletion	SAMN00007738	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,656
essv6511556	deletion	SAMN00001187	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,291
essv6548609	deletion	SAMN00000567	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	937

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5397175	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5474514	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5531252	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5533270	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5677827	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5728686	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5729686	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5780533	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5827525	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5907263	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5928249	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5969453	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5978046	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5992619	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6025047	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6096438	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6233714	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6261245	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6268026	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6291812	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6322175	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6324311	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6336007	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6351923	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6432360	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6469600	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6511556	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv6548609	Remapped	Perfect	NC_000013.11:g.245 86531_24602933delC	GRCh38.p12	First Pass	NC_000013.11	Chr13	24,586,531	24,602,933
essv5397175	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5474514	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5531252	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5533270	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5677827	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5728686	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5729686	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5780533	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5827525	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5907263	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5928249	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5969453	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5978046	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv5992619	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6025047	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6096438	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6233714	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6261245	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6268026	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6291812	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6322175	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6324311	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6336007	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6351923	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6432360	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6469600	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6511556	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071
essv6548609	Submitted genomic		NC_000013.10:g.251 60669_25177071delC	GRCh37 (hg19)		NC_000013.10	Chr13	25,160,669	25,177,071

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5474514	9	SAMN00000477	Oligo aCGH	Probe signal intensity	Pass
essv6548609	9	SAMN00000567	Oligo aCGH	Probe signal intensity	Pass
essv5729686	9	SAMN00000572	Oligo aCGH	Probe signal intensity	Pass
essv5677827	9	SAMN00000575	Oligo aCGH	Probe signal intensity	Pass
essv6291812	9	SAMN00001101	Oligo aCGH	Probe signal intensity	Pass
essv5827525	9	SAMN00001119	Oligo aCGH	Probe signal intensity	Pass
essv6233714	9	SAMN00001122	Oligo aCGH	Probe signal intensity	Pass
essv5728686	9	SAMN00001125	Oligo aCGH	Probe signal intensity	Pass
essv5780533	9	SAMN00001133	Oligo aCGH	Probe signal intensity	Pass
essv6336007	9	SAMN00001149	Oligo aCGH	Probe signal intensity	Pass
essv5907263	9	SAMN00001157	Oligo aCGH	Probe signal intensity	Pass
essv5397175	9	SAMN00001173	Oligo aCGH	Probe signal intensity	Pass
essv5978046	9	SAMN00001182	Oligo aCGH	Probe signal intensity	Pass
essv6511556	9	SAMN00001187	Oligo aCGH	Probe signal intensity	Pass
essv5531252	9	SAMN00001577	Oligo aCGH	Probe signal intensity	Pass
essv6025047	9	SAMN00001583	Oligo aCGH	Probe signal intensity	Pass
essv6432360	9	SAMN00001586	Oligo aCGH	Probe signal intensity	Pass
essv5992619	9	SAMN00001588	Oligo aCGH	Probe signal intensity	Pass
essv6268026	9	SAMN00001624	Oligo aCGH	Probe signal intensity	Pass
essv6322175	9	SAMN00001629	Oligo aCGH	Probe signal intensity	Pass
essv5533270	9	SAMN00001678	Oligo aCGH	Probe signal intensity	Pass
essv6096438	9	SAMN00001685	Oligo aCGH	Probe signal intensity	Pass
essv5928249	9	SAMN00004417	Oligo aCGH	Probe signal intensity	Pass
essv6469600	9	SAMN00007738	Oligo aCGH	Probe signal intensity	Pass
essv6351923	9	SAMN00007740	Oligo aCGH	Probe signal intensity	Pass
essv5969453	9	SAMN00007823	Oligo aCGH	Probe signal intensity	Pass
essv6261245	9	SAMN00007868	Oligo aCGH	Probe signal intensity	Pass
essv6324311	9	SAMN00014396	Oligo aCGH	Probe signal intensity	Pass
essv5474514	7	SAMN00000477	SNP array	Probe signal intensity	Pass
essv6548609	7	SAMN00000567	SNP array	Probe signal intensity	Pass
essv5729686	7	SAMN00000572	SNP array	Probe signal intensity	Pass
essv5677827	7	SAMN00000575	SNP array	Probe signal intensity	Pass
essv6291812	7	SAMN00001101	SNP array	Probe signal intensity	Pass
essv5827525	7	SAMN00001119	SNP array	Probe signal intensity	Pass
essv6233714	7	SAMN00001122	SNP array	Probe signal intensity	Pass
essv5728686	7	SAMN00001125	SNP array	Probe signal intensity	Pass
essv5780533	7	SAMN00001133	SNP array	Probe signal intensity	Pass
essv6336007	7	SAMN00001149	SNP array	Probe signal intensity	Pass
essv5907263	7	SAMN00001157	SNP array	Probe signal intensity	Pass
essv5397175	7	SAMN00001173	SNP array	Probe signal intensity	Pass
essv5978046	7	SAMN00001182	SNP array	Probe signal intensity	Pass
essv6511556	7	SAMN00001187	SNP array	Probe signal intensity	Pass
essv5531252	7	SAMN00001577	SNP array	Probe signal intensity	Pass
essv6025047	7	SAMN00001583	SNP array	Probe signal intensity	Pass
essv6432360	7	SAMN00001586	SNP array	Probe signal intensity	Pass
essv5992619	7	SAMN00001588	SNP array	Probe signal intensity	Pass
essv6268026	7	SAMN00001624	SNP array	Probe signal intensity	Pass
essv6322175	7	SAMN00001629	SNP array	Probe signal intensity	Pass
essv5533270	7	SAMN00001678	SNP array	Probe signal intensity	Pass
essv6096438	7	SAMN00001685	SNP array	Probe signal intensity	Pass
essv5928249	7	SAMN00004417	SNP array	Probe signal intensity	Pass
essv6469600	7	SAMN00007738	SNP array	Probe signal intensity	Pass
essv6351923	7	SAMN00007740	SNP array	Probe signal intensity	Pass
essv5969453	7	SAMN00007823	SNP array	Probe signal intensity	Pass
essv6261245	7	SAMN00007868	SNP array	Probe signal intensity	Pass
essv6324311	7	SAMN00014396	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2678880

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

Validation Information

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant