A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8626n54



Internal ID20142050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142093917..142366468hg38UCSC Ensembl
chr3:141812759..142085310hg19UCSC Ensembl
chr3:143295449..143568000hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38272552
hg19272552
hg18272552
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591912, nsv591916, nsv591914
Samples1798860102_A, 1780854038_A
Known GenesGK5, TFDP2, XRN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8626n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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