A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2243n54



Internal ID22770138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:417316..422206hg38UCSC Ensembl
chr12:526482..531372hg19UCSC Ensembl
chr12:396743..401633hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384891
hg194891
hg184891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556868, nsv556867
Samples
Known GenesCCDC77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2243n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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