A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2395n54



Internal ID18994571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18223260..18350960hg38UCSC Ensembl
chr12:18376194..18503894hg19UCSC Ensembl
chr12:18267461..18395161hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38127701
hg19127701
hg18127701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557668, nsv557669
Samples
Known GenesPIK3C2G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2395n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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