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dbVar

Database of genomic structural variation

esv3817258

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
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 Project Consortium et al. 2015

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
esv3817258	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	22,680,131 (-1000, +500)	22,902,971 (-500, +1000)
esv3817258	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
essv16840815	deletion	SAMN00009088	Sequencing	Read depth and paired-end mapping	Heterozygous	2,888
essv16840816	deletion	SAMN00006412	Sequencing	Read depth and paired-end mapping	Heterozygous	3,016
essv16840817	deletion	SAMN00014324	Sequencing	Read depth and paired-end mapping	Heterozygous	3,048
essv16840818	deletion	SAMN01761348	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv16840819	deletion	SAMN01090988	Sequencing	Read depth and paired-end mapping	Heterozygous	2,742
essv16840820	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16840821	deletion	SAMN00001226	Sequencing	Read depth and paired-end mapping	Heterozygous	3,613
essv16840822	deletion	SAMN00001249	Sequencing	Read depth and paired-end mapping	Heterozygous	3,557
essv16840823	deletion	SAMN00001252	Sequencing	Read depth and paired-end mapping	Heterozygous	3,317

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16840815	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)
essv16840816	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)
essv16840817	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)
essv16840818	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)
essv16840819	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)
essv16840820	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)
essv16840821	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)
essv16840822	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)
essv16840823	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)
essv16840815	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)
essv16840816	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)
essv16840817	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)
essv16840818	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)
essv16840819	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)
essv16840820	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)
essv16840821	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)
essv16840822	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)
essv16840823	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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