A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763953



Internal ID10377989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:71245253..71258332hg38UCSC Ensembl
Innerchr6:71954956..71968035hg19UCSC Ensembl
Innerchr6:72011677..72024756hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3813080
hg1913080
hg1813080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7032336, essv7032334
SamplesSW_0636, SW_0604
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)esv2763953
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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