A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763957



Internal ID10377993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80857920..80946662hg38UCSC Ensembl
Innerchr6:81567637..81656379hg19UCSC Ensembl
Innerchr6:81624356..81713098hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3888743
hg1988743
hg1888743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032984, essv7032983
SamplesSW_0890, SW_1470
Known Genes
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)esv2763957
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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