A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2720n54



Internal ID22770615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74456426..74537569hg38UCSC Ensembl
chr12:74850206..74931349hg19UCSC Ensembl
chr12:73136473..73217616hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3881144
hg1981144
hg1881144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559417, nsv559414, nsv559416
Samples1780862310_A, 1780862109_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2720n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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