Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv2756991

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:143,346

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: 660 SVs from 73 studies. See in: genome view

Remapped(Score: Good):60,814,994-60,958,339

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv2756991	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	60,814,994	60,958,339
esv2756991	Remapped	Pass	GRCh37.p13	Primary Assembly	Second Pass	NC_000003.11	Chr3	60,830,770	60,944,011
esv2756991	Remapped	Pass	GRCh37.p13	PATCHES	First Pass	NW_003871058.1	Chr3\|NW_00 3871058.1	272,500	385,741
esv2756991	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000003.9	Chr3	60,775,739	60,919,051

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv12872	copy number loss	NA18502	SNP array	SNP genotyping analysis	89
essv22249	copy number loss	NA11992	SNP array	SNP genotyping analysis	70
essv21367	copy number loss	NA10860	SNP array	SNP genotyping analysis	97

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv12872	Remapped	Good	NC_000003.12:g.(60 814994_60814994)_( 60958339_60958339) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	60,814,994	60,814,994	60,958,339	60,958,339
essv22249	Remapped	Good	NC_000003.12:g.(60 831661_60831661)_( 60936035_60936035) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	60,831,661	60,831,661	60,936,035	60,936,035
essv21367	Remapped	Good	NC_000003.12:g.(60 839988_60839988)_( 60936035_60936035) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	60,839,988	60,839,988	60,936,035	60,936,035
essv21367	Remapped	Pass	NW_003871058.1:g.( ?_272500)_(347910_ 363437)del	GRCh37.p13	First Pass	NW_003871058.1	Chr3\|NW_00 3871058.1	-	272,500	347,910	363,437
essv22249	Remapped	Pass	NW_003871058.1:g.( ?_272500)_(349743_ 363437)del	GRCh37.p13	First Pass	NW_003871058.1	Chr3\|NW_00 3871058.1	-	272,500	349,743	363,437
essv12872	Remapped	Pass	NW_003871058.1:g.( ?_272500)_(380704_ 385741)del	GRCh37.p13	First Pass	NW_003871058.1	Chr3\|NW_00 3871058.1	-	272,500	380,704	385,741
essv21367	Remapped	Pass	NC_000003.11:g.(?_ 60830770)_(6090618 0_60921707)del	GRCh37.p13	Second Pass	NC_000003.11	Chr3	-	60,830,770	60,906,180	60,921,707
essv22249	Remapped	Pass	NC_000003.11:g.(?_ 60830770)_(6090801 3_60921707)del	GRCh37.p13	Second Pass	NC_000003.11	Chr3	-	60,830,770	60,908,013	60,921,707
essv12872	Remapped	Pass	NC_000003.11:g.(?_ 60830770)_(6093897 4_60944011)del	GRCh37.p13	Second Pass	NC_000003.11	Chr3	-	60,830,770	60,938,974	60,944,011
essv12872	Submitted genomic		NC_000003.9:g.(607 75739_60900243)_(6 0914014_60919051)d el	NCBI35 (hg17)		NC_000003.9	Chr3	60,775,739	60,900,243	60,914,014	60,919,051
essv22249	Submitted genomic		NC_000003.9:g.(607 92362_60800692)_(6 0883053_60896747)d el	NCBI35 (hg17)		NC_000003.9	Chr3	60,792,362	60,800,692	60,883,053	60,896,747
essv21367	Submitted genomic		NC_000003.9:g.(608 00692_60800692)_(6 0881220_60896747)d el	NCBI35 (hg17)		NC_000003.9	Chr3	60,800,692	60,800,692	60,881,220	60,896,747

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

You are here: NCBI