A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762687



Internal ID10030037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:92634036..92637533hg38UCSC Ensembl
Innerchr7:92263350..92266847hg19UCSC Ensembl
Innerchr7:92101286..92104783hg18UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg383498
hg193498
hg183498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014846
SamplesRW_0039
Known GenesCDK6
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)esv2762687
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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