A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763967



Internal ID10031317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34598478..34957686hg38UCSC Ensembl
Innerchr6:34566255..34925463hg19UCSC Ensembl
Innerchr6:34674233..35033441hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38359209
hg19359209
hg18359209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032074, essv7032073
SamplesSW_1097, SW_1357
Known GenesANKS1A, C6orf106, SNRPC, TAF11, UHRF1BP1
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)esv2763967
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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