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dbVar

Database of genomic structural variation

esv3816704

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:155,904

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: 818 SVs from 63 studies. See in: genome view

Remapped(Score: Good):145,243,822-145,401,725

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3816704	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
esv3816704	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16757433	deletion	SAMN00009088	Sequencing	Read depth and paired-end mapping	Heterozygous	2,888
essv16757434	deletion	SAMN00006412	Sequencing	Read depth and paired-end mapping	Heterozygous	3,016
essv16757435	deletion	SAMN00014324	Sequencing	Read depth and paired-end mapping	Heterozygous	3,048
essv16757436	deletion	SAMN01761348	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv16757437	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16757438	deletion	SAMN00001226	Sequencing	Read depth and paired-end mapping	Heterozygous	3,613
essv16757439	deletion	SAMN00001249	Sequencing	Read depth and paired-end mapping	Heterozygous	3,557
essv16757440	deletion	SAMN00001252	Sequencing	Read depth and paired-end mapping	Heterozygous	3,317
essv16757441	deletion	SAMN00001292	Sequencing	Read depth and paired-end mapping	Heterozygous	2,771

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16757433	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv16757434	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv16757435	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv16757436	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv16757437	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv16757438	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv16757439	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv16757440	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv16757441	Remapped	Good	NC_000023.11:g.(14 5243822_145245322) _(145400225_145401 725)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	145,244,822 (-1000, +500)	145,400,725 (-500, +1000)
essv16757433	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv16757434	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv16757435	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv16757436	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv16757437	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv16757438	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv16757439	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv16757440	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-500, +1000)
essv16757441	Submitted genomic		NC_000023.10:g.(14 4325342_144326842) _(144481743_144483 243)del	GRCh37 (hg19)		NC_000023.10	ChrX	144,326,342 (-1000, +500)	144,482,243 (-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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