A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2575n54



Internal ID22770470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39552552..39648418hg38UCSC Ensembl
chr12:39946354..40042220hg19UCSC Ensembl
chr12:38232621..38328487hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3895867
hg1995867
hg1895867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558592, nsv558591
SamplesHGDP01414, HGDP00994
Known GenesABCD2, C12orf40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2575n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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