A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2601n54



Internal ID22770496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44959584..44995034hg38UCSC Ensembl
chr12:45353367..45388817hg19UCSC Ensembl
chr12:43639634..43675084hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3835451
hg1935451
hg1835451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558751, nsv558752
SamplesHGDP00828, 1780862470_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2601n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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