A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12203n54



Internal ID22780098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74452293..74454628hg38UCSC Ensembl
chr8:75364528..75366863hg19UCSC Ensembl
chr8:75527083..75529418hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg382336
hg192336
hg182336
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611553, nsv611554, nsv611549
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12203n54
Frequency
Sample Size17421
Observed Gain30
Observed Loss743
Observed Complex0
Frequencyn/a


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