A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6130n54



Internal ID20139554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:80071200..80073417hg38UCSC Ensembl
chr18:77831200..77831830hg19UCSC Ensembl
chr18:75932188..75932818hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382218
hg19631
hg18631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv577968, nsv577967, nsv577960, nsv577965, nsv577966
Samples
Known GenesRBFADN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6130n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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