esv3890006

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:16
Validation:Not tested
Clinical Assertions: No
Region Size:189,300

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 782 SVs from 57 studies. See in: genome view

Remapped(Score: Good):125,967,263-126,156,566

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890006	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
esv3890006	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25606247	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv25606248	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25606249	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25606250	deletion	HG02941	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,309
essv25606251	deletion	HG03172	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,060
essv25606252	deletion	HG03202	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,283
essv25606253	deletion	HG03304	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,065
essv25606254	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25606255	deletion	HG03517	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,434
essv25606256	deletion	NA18511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,939
essv25606257	deletion	NA18520	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,716
essv25606258	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25606259	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25606260	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25606261	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922
essv25606262	deletion	NA20769	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,107

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25606247	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606248	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606249	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606250	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606251	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606252	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606253	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606254	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606255	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606256	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606257	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606258	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606259	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606260	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606261	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606262	Remapped	Good	NC_000023.11:g.(12 5967263_125967267) _(126156562_126156 566)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,967,265 (-2, +2)	126,156,564 (-2, +2)
essv25606247	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606248	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606249	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606250	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606251	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606252	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606253	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606254	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606255	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606256	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606257	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606258	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606259	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606260	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606261	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)
essv25606262	Submitted genomic		NC_000023.10:g.(12 5101245_125101249) _(125290545_125290 549)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,101,247 (-2, +2)	125,290,547 (-2, +2)

dbVar

Database of genomic structural variation

esv3890006

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.