A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761005



Internal ID10377312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:101093986..101100591hg38UCSC Ensembl
Innerchr6:101541862..101548467hg19UCSC Ensembl
Innerchr6:101648583..101655188hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg386606
hg196606
hg186606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014151, essv7014152
SamplesRW_0059, RW_0154
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)esv2761005
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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