A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2876n54



Internal ID22770771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112570529..112574905hg38UCSC Ensembl
chr12:113008333..113012709hg19UCSC Ensembl
chr12:111492716..111497092hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg384377
hg194377
hg184377
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560224, nsv560223
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2876n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss4
Observed Complex0
Frequencyn/a


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