esv2665446

Organism: Homo sapiens

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

Variant Calls:21
Validation:Yes
Clinical Assertions: No
Region Size:63,048

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: 693 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):41,139,042-41,202,089

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2665446	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
esv2665446	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5445912	deletion	SAMN00009117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,813
essv5456969	deletion	SAMN00009136	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,371
essv5480151	deletion	SAMN00009190	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,097
essv5496758	deletion	SAMN00006820	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,352
essv5592739	deletion	SAMN00009126	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,897
essv5654742	deletion	SAMN00006596	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,607
essv5740747	deletion	SAMN00006535	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,153
essv5744804	deletion	SAMN00006534	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	915
essv5759441	deletion	SAMN00006483	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	962
essv5916115	deletion	SAMN00006538	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,111
essv5940866	deletion	SAMN00009193	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,085
essv5975352	deletion	SAMN00009130	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,791
essv6095310	deletion	SAMN00009184	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,318
essv6118030	deletion	SAMN00009195	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,350
essv6207791	deletion	SAMN00006601	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	788
essv6251662	deletion	SAMN00006583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,292
essv6256065	deletion	SAMN00006586	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,508
essv6401844	deletion	SAMN00009140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,417
essv6416703	deletion	SAMN00009125	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,711
essv6507519	deletion	SAMN00009122	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,848
essv6595853	deletion	SAMN00006599	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,583

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5445912	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5456969	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5480151	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5496758	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5592739	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5654742	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5740747	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5744804	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5759441	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5916115	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5940866	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5975352	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv6095310	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv6118030	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv6207791	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv6251662	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv6256065	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv6401844	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv6416703	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv6507519	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv6595853	Remapped	Perfect	NC_000014.9:g.(411 39042_41139413)_(4 1201719_41202089)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	41,139,042	41,139,413	41,201,719	41,202,089
essv5445912	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5456969	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5480151	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5496758	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5592739	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5654742	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5740747	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5744804	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5759441	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5916115	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5940866	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv5975352	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv6095310	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv6118030	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv6207791	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv6251662	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv6256065	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv6401844	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv6416703	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv6507519	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292
essv6595853	Submitted genomic		NC_000014.8:g.(416 08245_41608616)_(4 1670922_41671292)d el	GRCh37 (hg19)		NC_000014.8	Chr14	41,608,245	41,608,616	41,670,922	41,671,292

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5759441	7	SAMN00006483	SNP array	Probe signal intensity	Pass
essv5744804	7	SAMN00006534	SNP array	Probe signal intensity	Pass
essv5740747	7	SAMN00006535	SNP array	Probe signal intensity	Pass
essv5916115	7	SAMN00006538	SNP array	Probe signal intensity	Pass
essv6251662	7	SAMN00006583	SNP array	Probe signal intensity	Pass
essv6256065	7	SAMN00006586	SNP array	Probe signal intensity	Pass
essv5654742	7	SAMN00006596	SNP array	Probe signal intensity	Pass
essv6595853	7	SAMN00006599	SNP array	Probe signal intensity	Pass
essv6207791	7	SAMN00006601	SNP array	Probe signal intensity	Pass
essv5496758	7	SAMN00006820	SNP array	Probe signal intensity	Pass
essv5445912	7	SAMN00009117	SNP array	Probe signal intensity	Pass
essv6507519	7	SAMN00009122	SNP array	Probe signal intensity	Pass
essv6416703	7	SAMN00009125	SNP array	Probe signal intensity	Pass
essv5592739	7	SAMN00009126	SNP array	Probe signal intensity	Pass
essv5975352	7	SAMN00009130	SNP array	Probe signal intensity	Pass
essv5456969	7	SAMN00009136	SNP array	Probe signal intensity	Pass
essv6401844	7	SAMN00009140	SNP array	Probe signal intensity	Pass
essv6095310	7	SAMN00009184	SNP array	Probe signal intensity	Pass
essv5480151	7	SAMN00009190	SNP array	Probe signal intensity	Pass
essv5940866	7	SAMN00009193	SNP array	Probe signal intensity	Pass
essv6118030	7	SAMN00009195	SNP array	Probe signal intensity	Pass

dbVar

Database of genomic structural variation

esv2665446

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