A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761080



Internal ID10377387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:63650007..63854094hg38UCSC Ensembl
Innerchr7:63110385..63314472hg19UCSC Ensembl
Innerchr7:62747820..62951907hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38204088
hg19204088
hg18204088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014750, essv7014754, essv7014751, essv7014746, essv7014747, essv7014749, essv7014755, essv7014753, essv7014752, essv7014748
SamplesRW_0660, RW_0585, RW_0069, RW_0137, RW_0111, RW_0023, RW_0611, RW_0257, RW_0042, RW_0632
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)esv2761080
Frequency
Sample Size1109
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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