A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5112229



Internal ID8150483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31312324..31373563hg38UCSC Ensembl
Innerchr6:31280101..31341340hg19UCSC Ensembl
Innerchr6:31388080..31449319hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3861240
hg1961240
hg1861240
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421676
Supporting Variants
SamplesNA18993
Known GenesHLA-B, MIR6891
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)essv5112229
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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