A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5503n54



Internal ID22773398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21352097..21533320hg38UCSC Ensembl
chr17:21255409..21436581hg19UCSC Ensembl
chr17:21196002..21377174hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38181224
hg19181173
hg18181173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv574599, nsv574602, nsv574601, nsv574603
SamplesHGDP01166, HGDP00800, HGDP00878, HGDP01099
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5503n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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