A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421684



Internal ID8252132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:6168573..6171232hg38UCSC Ensembl
Innerchr11:6189803..6192462hg19UCSC Ensembl
Innerchr11:6146379..6149038hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382660
hg192660
hg182660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5146797, essv5022691, essv5035179, essv5044806, essv5144057, essv5005787, essv5114424, essv5122142, essv5110783, essv5151025, essv5046309, essv5082853, essv5066807
SamplesNA19204, NA18504, NA19314, NA18489, NA19128, NA19159, NA19239, NA19161, NA18503, NA19147, NA20276, NA19144, NA19129
Known GenesOR52B2
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)esv2421684
Frequency
Sample Size1184
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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