A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763622



Internal ID10376302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12335902..12384957hg38UCSC Ensembl
Innerchr7:12375528..12424583hg19UCSC Ensembl
Innerchr7:12342053..12391108hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3849056
hg1949056
hg1849056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033392
SamplesSW_0590
Known GenesVWDE
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)esv2763622
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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