A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761117



Internal ID10377424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140882300..140894285hg38UCSC Ensembl
Innerchr7:140582100..140594085hg19UCSC Ensembl
Innerchr7:140228569..140240554hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3811986
hg1911986
hg1811986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7015139, essv7015138
SamplesRW_0030, RW_0193
Known GenesBRAF
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)esv2761117
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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