A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8340n54



Internal ID22776235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:59774392..59841664hg38UCSC Ensembl
chr3:59760118..59827390hg19UCSC Ensembl
chr3:59735158..59802430hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3867273
hg1967273
hg1867273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590383, nsv590381
SamplesNINDS_206
Known GenesFHIT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8340n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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