A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2913n54



Internal ID20136337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119989016..119990058hg38UCSC Ensembl
chr12:120426820..120427862hg19UCSC Ensembl
chr12:118911203..118912245hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381043
hg191043
hg181043
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560430, nsv560427, nsv560422
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2913n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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