A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5590n54



Internal ID20139014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40981021..41029209hg38UCSC Ensembl
chr17:39137273..39185461hg19UCSC Ensembl
chr17:36390799..36438987hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3848189
hg1948189
hg1848189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575004, nsv575003
Samples
Known GenesKRT40, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP3-3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5590n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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