A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8424n54



Internal ID22776319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85604283..85645837hg38UCSC Ensembl
chr3:85653433..85694987hg19UCSC Ensembl
chr3:85736123..85777677hg18UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3841555
hg1941555
hg1841555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590910, nsv590909, nsv590908
SamplesHGDP01238, HGDP01213
Known GenesCADM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8424n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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