A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5102502



Internal ID8104079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75724865..75734920hg38UCSC Ensembl
Innerchr7:75354183..75364238hg19UCSC Ensembl
Innerchr7:75192119..75202174hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3810056
hg1910056
hg1810056
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421823
Supporting Variants
SamplesNA12249
Known GenesHIP1
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)essv5102502
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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