A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6787n54



Internal ID20140211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37855471..37965002hg38UCSC Ensembl
chr2:38082614..38192145hg19UCSC Ensembl
chr2:37936118..38045649hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38109532
hg19109532
hg18109532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581474, nsv581475
Samples
Known GenesRMDN2, RMDN2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6787n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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