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dbVar

Database of genomic structural variation

esv3888425

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:9
Validation:Not tested
Clinical Assertions: No
Region Size:222,841

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: 945 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):22,679,131-22,903,971

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3888425	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
esv3888425	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25224500	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv25224501	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25224502	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25224503	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25224504	deletion	HG03888	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,353
essv25224505	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25224506	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25224507	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25224508	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
essv25224500	Remapped	Perfect	NC_000023.11:g.(22 679131_22680631)_( 22902471_22903971) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
essv25224501	Remapped	Perfect	NC_000023.11:g.(22 679131_22680631)_( 22902471_22903971) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
essv25224502	Remapped	Perfect	NC_000023.11:g.(22 679131_22680631)_( 22902471_22903971) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
essv25224503	Remapped	Perfect	NC_000023.11:g.(22 679131_22680631)_( 22902471_22903971) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
essv25224504	Remapped	Perfect	NC_000023.11:g.(22 679131_22680631)_( 22902471_22903971) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
essv25224505	Remapped	Perfect	NC_000023.11:g.(22 679131_22680631)_( 22902471_22903971) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
essv25224506	Remapped	Perfect	NC_000023.11:g.(22 679131_22680631)_( 22902471_22903971) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
essv25224507	Remapped	Perfect	NC_000023.11:g.(22 679131_22680631)_( 22902471_22903971) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
essv25224508	Remapped	Perfect	NC_000023.11:g.(22 679131_22680631)_( 22902471_22903971) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
essv25224500	Submitted genomic		NC_000023.10:g.(22 697248_22698748)_( 22920588_22922088) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-500, +1000)
essv25224501	Submitted genomic		NC_000023.10:g.(22 697248_22698748)_( 22920588_22922088) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-500, +1000)
essv25224502	Submitted genomic		NC_000023.10:g.(22 697248_22698748)_( 22920588_22922088) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-500, +1000)
essv25224503	Submitted genomic		NC_000023.10:g.(22 697248_22698748)_( 22920588_22922088) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-500, +1000)
essv25224504	Submitted genomic		NC_000023.10:g.(22 697248_22698748)_( 22920588_22922088) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-500, +1000)
essv25224505	Submitted genomic		NC_000023.10:g.(22 697248_22698748)_( 22920588_22922088) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-500, +1000)
essv25224506	Submitted genomic		NC_000023.10:g.(22 697248_22698748)_( 22920588_22922088) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-500, +1000)
essv25224507	Submitted genomic		NC_000023.10:g.(22 697248_22698748)_( 22920588_22922088) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-500, +1000)
essv25224508	Submitted genomic		NC_000023.10:g.(22 697248_22698748)_( 22920588_22922088) del	GRCh37 (hg19)		NC_000023.10	ChrX	22,698,248 (-1000, +500)	22,921,088 (-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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