A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2943n54



Internal ID18995119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124540561..124541057hg38UCSC Ensembl
chr12:125025107..125025603hg19UCSC Ensembl
chr12:123591060..123591556hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38497
hg19497
hg18497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560576, nsv560577
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2943n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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