A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007703



Internal ID10337895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77563473..77606619hg38UCSC Ensembl
Innerchr2:77790599..77833745hg19UCSC Ensembl
Innerchr2:77644107..77687253hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3843147
hg1943147
hg1843147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760608
Supporting Variants
SamplesRW_0169
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)essv7007703
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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