A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5013237



Internal ID8163259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6055381..6059063hg38UCSC Ensembl
Innerchr17:5958701..5962383hg19UCSC Ensembl
Innerchr17:5899425..5903107hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383683
hg193683
hg183683
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421889
Supporting Variants
SamplesNA19149
Known Genes
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)essv5013237
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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