A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5083973



Internal ID8127013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31903708..31910718hg38UCSC Ensembl
Innerchr6:31871485..31878495hg19UCSC Ensembl
Innerchr6:31979464..31986474hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg387011
hg197011
hg187011
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422045
Supporting Variants
SamplesNA18518
Known GenesC2
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)essv5083973
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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