A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422045



Internal ID8252494
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5044705, essv5043265, essv5126521, essv5103119, essv5087984, essv5013571, essv5003371, essv5158526, essv5083973, essv5093016, essv5160345, essv5009249, essv5085092, essv5144795, essv5160385, essv5122025
SamplesNA19005, NA18619, NA20539, NA18748, NA19725, NA18520, NA19456, NA18645, NA20883, NA18518, NA21142, NA21144, NA19072, NA19144, NA18128, NA19080
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)esv2422045
Frequency
Sample Size1184
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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