A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763752



Internal ID10377788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119012086..119115295hg38UCSC Ensembl
Innerchr3:118730933..118834142hg19UCSC Ensembl
Innerchr3:120213623..120316832hg18UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg38103210
hg19103210
hg18103210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027693, essv7027695, essv7027696, essv7027694, essv7027697
SamplesSW_1325, SW_1330, SW_0888, SW_0091, SW_1440
Known GenesIGSF11
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2763752
Frequency
Sample Size1109
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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