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dbVar

Database of genomic structural variation

esv3890208

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:8
Validation:Not tested
Clinical Assertions: No
Region Size:51,650

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

Remapped(Score: Perfect):139,071,033-139,124,682

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890208	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	139,072,033 (-1000, +500)	139,123,682 (-500, +1000)
esv3890208	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	138,154,195 (-1000, +500)	138,205,844 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25657442	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv25657443	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25657444	deletion	HG01102	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,144
essv25657445	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25657446	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25657447	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25657448	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25657449	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25657442	Remapped	Perfect	NC_000023.11:g.(13 9071033_139072533) _(139123182_139124 682)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,072,033 (-1000, +500)	139,123,682 (-500, +1000)
essv25657443	Remapped	Perfect	NC_000023.11:g.(13 9071033_139072533) _(139123182_139124 682)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,072,033 (-1000, +500)	139,123,682 (-500, +1000)
essv25657444	Remapped	Perfect	NC_000023.11:g.(13 9071033_139072533) _(139123182_139124 682)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,072,033 (-1000, +500)	139,123,682 (-500, +1000)
essv25657445	Remapped	Perfect	NC_000023.11:g.(13 9071033_139072533) _(139123182_139124 682)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,072,033 (-1000, +500)	139,123,682 (-500, +1000)
essv25657446	Remapped	Perfect	NC_000023.11:g.(13 9071033_139072533) _(139123182_139124 682)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,072,033 (-1000, +500)	139,123,682 (-500, +1000)
essv25657447	Remapped	Perfect	NC_000023.11:g.(13 9071033_139072533) _(139123182_139124 682)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,072,033 (-1000, +500)	139,123,682 (-500, +1000)
essv25657448	Remapped	Perfect	NC_000023.11:g.(13 9071033_139072533) _(139123182_139124 682)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,072,033 (-1000, +500)	139,123,682 (-500, +1000)
essv25657449	Remapped	Perfect	NC_000023.11:g.(13 9071033_139072533) _(139123182_139124 682)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	139,072,033 (-1000, +500)	139,123,682 (-500, +1000)
essv25657442	Submitted genomic		NC_000023.10:g.(13 8153195_138154695) _(138205344_138206 844)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,154,195 (-1000, +500)	138,205,844 (-500, +1000)
essv25657443	Submitted genomic		NC_000023.10:g.(13 8153195_138154695) _(138205344_138206 844)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,154,195 (-1000, +500)	138,205,844 (-500, +1000)
essv25657444	Submitted genomic		NC_000023.10:g.(13 8153195_138154695) _(138205344_138206 844)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,154,195 (-1000, +500)	138,205,844 (-500, +1000)
essv25657445	Submitted genomic		NC_000023.10:g.(13 8153195_138154695) _(138205344_138206 844)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,154,195 (-1000, +500)	138,205,844 (-500, +1000)
essv25657446	Submitted genomic		NC_000023.10:g.(13 8153195_138154695) _(138205344_138206 844)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,154,195 (-1000, +500)	138,205,844 (-500, +1000)
essv25657447	Submitted genomic		NC_000023.10:g.(13 8153195_138154695) _(138205344_138206 844)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,154,195 (-1000, +500)	138,205,844 (-500, +1000)
essv25657448	Submitted genomic		NC_000023.10:g.(13 8153195_138154695) _(138205344_138206 844)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,154,195 (-1000, +500)	138,205,844 (-500, +1000)
essv25657449	Submitted genomic		NC_000023.10:g.(13 8153195_138154695) _(138205344_138206 844)del	GRCh37 (hg19)		NC_000023.10	ChrX	138,154,195 (-1000, +500)	138,205,844 (-500, +1000)

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.

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