A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7651n54



Internal ID22775546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62315508..62427975hg38UCSC Ensembl
chr20:60890564..61003031hg19UCSC Ensembl
chr20:60323959..60436426hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38112468
hg19112468
hg18112468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586495, nsv586487, nsv586489, nsv586494
SamplesHGDP00491, HGDP00433, 1780862275_A, HGDP01351
Known GenesCABLES2, LAMA5, MIR4758, RBBP8NL, RPS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7651n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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