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dbVar

Database of genomic structural variation

esv2757826

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:178,832

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: 578 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):113,317,372-113,496,203

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2757826	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	113,317,372	113,496,203
esv2757826	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	114,074,949	114,253,780
esv2757826	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000002.9	Chr2	113,791,179	113,970,010

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv20021	copy number loss	NA07048	BAC aCGH	Probe signal intensity	157
essv5327	copy number gain	NA18563	BAC aCGH	Probe signal intensity	139
essv901	copy number gain	NA19000	BAC aCGH	Probe signal intensity	93

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv20021	Remapped	Perfect	NC_000002.12:g.(?_ 113317372)_(113498 039_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	113,317,372	113,498,039
essv5327	Remapped	Perfect	NC_000002.12:g.(?_ 113317372)_(113498 039_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	113,317,372	113,498,039
essv901	Remapped	Perfect	NC_000002.12:g.(?_ 113494368)_(113671 101_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	113,494,368	113,671,101
essv20021	Remapped	Perfect	NC_000002.11:g.(?_ 114074949)_(114255 616_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	114,074,949	114,255,616
essv5327	Remapped	Perfect	NC_000002.11:g.(?_ 114074949)_(114255 616_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	114,074,949	114,255,616
essv901	Remapped	Perfect	NC_000002.11:g.(?_ 114251945)_(114428 678_?)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	114,251,945	114,428,678
essv20021	Submitted genomic		NC_000002.9:g.(?_1 13791179)_(1139718 46_?)del	NCBI35 (hg17)		NC_000002.9	Chr2	113,791,179	113,971,846
essv5327	Submitted genomic		NC_000002.9:g.(?_1 13791179)_(1139718 46_?)dup	NCBI35 (hg17)		NC_000002.9	Chr2	113,791,179	113,971,846
essv901	Submitted genomic		NC_000002.9:g.(?_1 13968175)_(1141449 08_?)dup	NCBI35 (hg17)		NC_000002.9	Chr2	113,968,175	114,144,908

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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