A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421889



Internal ID8252337
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5031107, essv5157602, essv5055200, essv5013237, essv5120374, essv5061823, essv5133985, essv5092837, essv5145889, essv5099627, essv5064083, essv5080709, essv5156436
SamplesNA19237, NA19204, NA19373, NA21447, NA19235, NA19456, NA20335, NA19247, NA21439, NA19151, NA19160, NA19149, NA19334
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)esv2421889
Frequency
Sample Size1184
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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