A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2683n54



Internal ID22770578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67533561..67534444hg38UCSC Ensembl
chr12:67927341..67928224hg19UCSC Ensembl
chr12:66213608..66214491hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38884
hg19884
hg18884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559215, nsv559214, nsv559213, nsv559217, nsv559216
Samples
Known GenesLOC100507175
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2683n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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