A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5119169



Internal ID8123741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41350863..41368926hg38UCSC Ensembl
Innerchr17:39507115..39525178hg19UCSC Ensembl
Innerchr17:36760641..36778704hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3818064
hg1918064
hg1818064
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422104
Supporting Variants
SamplesNA18485
Known GenesKRT33B
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5119169
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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