A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2396n54



Internal ID22770291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19277698..19387160hg38UCSC Ensembl
chr12:19430632..19540094hg19UCSC Ensembl
chr12:19321899..19431361hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38109463
hg19109463
hg18109463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557676, nsv557677
Samples1780862015_A
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2396n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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