A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422059



Internal ID8252507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:210907426..210913651hg38UCSC Ensembl
Innerchr2:211772150..211778375hg19UCSC Ensembl
Innerchr2:211480395..211486620hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg386226
hg196226
hg186226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5029655, essv5079534, essv5157835, essv5113842, essv5091503, essv5125480, essv5086594, essv5153688, essv5087061, essv5024232, essv5048157, essv5066355
SamplesNA18862, NA20294, NA20346, NA20364, NA19471, NA20347, NA18853, NA19473, NA18501, NA19472, NA18500, NA18854
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)esv2422059
Frequency
Sample Size1184
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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