esv3888177

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:84,379

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: 1102 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):6,825,614-6,911,992

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3888177	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
esv3888177	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25165968	deletion	HG00180	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,031
essv25165969	deletion	HG00274	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,956
essv25165970	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25165971	deletion	HG00380	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,305
essv25165972	deletion	HG01058	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,958
essv25165973	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25165974	deletion	HG01431	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,464
essv25165975	deletion	HG01612	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,147
essv25165976	deletion	HG01863	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,290
essv25165977	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25165978	deletion	NA18520	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,716
essv25165979	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25165980	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25165981	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25165982	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922
essv25165983	deletion	NA20852	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,652

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25165968	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165969	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165970	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165971	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165972	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165973	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165974	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165975	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165976	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165977	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165978	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165979	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165980	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165981	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165982	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165983	Remapped	Perfect	NC_000023.11:g.(68 25614_6827114)_(69 10492_6911992)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	6,826,614 (-1000, +500)	6,910,992 (-500, +1000)
essv25165968	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165969	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165970	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165971	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165972	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165973	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165974	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165975	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165976	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165977	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165978	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165979	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165980	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165981	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165982	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)
essv25165983	Submitted genomic		NC_000023.10:g.(67 43655_6745155)_(68 28533_6830033)del	GRCh37 (hg19)		NC_000023.10	ChrX	6,744,655 (-1000, +500)	6,829,033 (-500, +1000)

dbVar

Database of genomic structural variation

esv3888177

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.