A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5613n54



Internal ID20139037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45513706..45519617hg38UCSC Ensembl
chr17:43591072..43596983hg19UCSC Ensembl
chr17:40946855..40952766hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385912
hg195912
hg185912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575119, nsv575118, nsv575117, nsv575123, nsv575120
Samples
Known GenesLRRC37A4P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5613n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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