A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2797n54



Internal ID18994973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94148992..94150296hg38UCSC Ensembl
chr12:94542768..94544072hg19UCSC Ensembl
chr12:93066899..93068203hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381305
hg191305
hg181305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559803, nsv559804
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2797n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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