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dbVar

Database of genomic structural variation

esv2763790

Organism: Homo sapiens

Study:estd203 (Vogler et al. 2010)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:143,596

Publication(s):Vogler et al. 2010

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: 2168 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):189,657,542-189,801,137

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Outer Stop
esv2763790	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	189,657,542	189,801,137
esv2763790	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	190,578,696	190,722,291
esv2763790	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	190,815,690	190,959,285

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv7030399	copy number gain	SW_0155	SNP array	SNP genotyping analysis	31
essv7030398	copy number gain	SW_1436	SNP array	SNP genotyping analysis	64

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv7030399	Remapped	Perfect	NT_187679.1:g.(?_3 86717)_(449866_?)d up	GRCh38.p12	Second Pass	NT_187679.1	Chr4\|NT_18 7679.1	386,717	449,866
essv7030399	Remapped	Perfect	NT_187543.1:g.(?_7 1541)_(134690_?)du p	GRCh38.p12	Second Pass	NT_187543.1	Chr4\|NT_18 7543.1	71,541	134,690
essv7030399	Remapped	Perfect	NT_187650.1:g.(?_7 1541)_(134690_?)du p	GRCh38.p12	Second Pass	NT_187650.1	Chr4\|NT_18 7650.1	71,541	134,690
essv7030398	Remapped	Perfect	NC_000004.12:g.(?_ 189657542)_(189764 880_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	189,657,542	189,764,880
essv7030399	Remapped	Perfect	NC_000004.12:g.(?_ 189737988)_(189801 137_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	189,737,988	189,801,137
essv7030398	Remapped	Perfect	NC_000004.11:g.(?_ 190578696)_(190686 034_?)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	190,578,696	190,686,034
essv7030399	Remapped	Perfect	NC_000004.11:g.(?_ 190659142)_(190722 291_?)dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	190,659,142	190,722,291
essv7030398	Submitted genomic		NC_000004.10:g.(?_ 190815690)_(190923 028_?)dup	NCBI36 (hg18)		NC_000004.10	Chr4	190,815,690	190,923,028
essv7030399	Submitted genomic		NC_000004.10:g.(?_ 190896136)_(190959 285_?)dup	NCBI36 (hg18)		NC_000004.10	Chr4	190,896,136	190,959,285

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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