A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763165



Internal ID10030515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131961977..132601016hg38UCSC Ensembl
Innerchr2:132719550..133358589hg19UCSC Ensembl
Innerchr2:132436020..133075059hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38639040
hg19639040
hg18639040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018300, essv7018288, essv7018311, essv7018322
SamplesSW_1436, SW_0760, SW_1074, SW_1156
Known GenesANKRD30BL, GPR39, MIR663B
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)esv2763165
Frequency
Sample Size1109
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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