A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2907n54



Internal ID20136331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119985668..119990058hg38UCSC Ensembl
chr12:120423472..120427862hg19UCSC Ensembl
chr12:118907855..118912245hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg384391
hg194391
hg184391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560402, nsv560403
Samples
Known GenesCCDC64
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2907n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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