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dbVar

Database of genomic structural variation

esv2757219

Organism: Homo sapiens

Study:estd1 (Redon et al. 2006)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:177,921

Publication(s):Redon et al. 2006

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: 713 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):19,356,523-19,534,443

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757219	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	19,356,523	19,534,443
esv2757219	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	19,396,146	19,574,066
esv2757219	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000007.11	Chr7	19,169,386	19,347,306

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv23270	copy number gain	NA07345	SNP array	SNP genotyping analysis	63
essv21628	copy number gain	NA07348	SNP array	SNP genotyping analysis	99

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv23270	Remapped	Perfect	NC_000007.14:g.(19 356523_19375920)_( 19494213_19534443) dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	19,356,523	19,375,920	19,494,213	19,534,443
essv21628	Remapped	Perfect	NC_000007.14:g.(19 365671_19423330)_( 19494213_19531940) dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	19,365,671	19,423,330	19,494,213	19,531,940
essv23270	Remapped	Perfect	NC_000007.13:g.(19 396146_19415543)_( 19533836_19574066) dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	19,396,146	19,415,543	19,533,836	19,574,066
essv21628	Remapped	Perfect	NC_000007.13:g.(19 405294_19462953)_( 19533836_19571563) dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	19,405,294	19,462,953	19,533,836	19,571,563
essv23270	Submitted genomic		NC_000007.11:g.(19 169386_19188783)_( 19307076_19347306) dup	NCBI35 (hg17)		NC_000007.11	Chr7	19,169,386	19,188,783	19,307,076	19,347,306
essv21628	Submitted genomic		NC_000007.11:g.(19 178534_19236193)_( 19307076_19344803) dup	NCBI35 (hg17)		NC_000007.11	Chr7	19,178,534	19,236,193	19,307,076	19,344,803

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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