A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3870n100



Internal ID20155486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73692058..73811819hg38UCSC Ensembl
chr2:73919185..74038946hg19UCSC Ensembl
chr2:73772693..73892454hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38119762
hg19119762
hg18119762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998315, nsv1000675
Samples
Known GenesC2orf78, DUSP11, NAT8B, TPRKB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3870n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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