A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7610n54



Internal ID20141034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54031284..54048330hg38UCSC Ensembl
chr20:52647823..52664869hg19UCSC Ensembl
chr20:52081230..52098276hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3817047
hg1917047
hg1817047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586246, nsv586247, nsv586261, nsv586249, nsv586268, nsv586267, nsv586260, nsv586259, nsv586248
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7610n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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