A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5003143



Internal ID7747001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59032966..59040760hg38UCSC Ensembl
Innerchr17:57110327..57118121hg19UCSC Ensembl
Innerchr17:54465109..54472903hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387795
hg197795
hg187795
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421884
Supporting Variants
SamplesNA18942
Known GenesTRIM37
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)essv5003143
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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