A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2412n54



Internal ID20135836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24738241..25054719hg38UCSC Ensembl
chr12:24891175..25207653hg19UCSC Ensembl
chr12:24782442..25098920hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38316479
hg19316479
hg18316479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557776, nsv557778, nsv557777
SamplesHGDP01379
Known GenesBCAT1, C12orf77, LRMP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2412n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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