A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5132055



Internal ID7875913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88041424..88043077hg38UCSC Ensembl
Innerchr7:87670739..87672392hg19UCSC Ensembl
Innerchr7:87508675..87510328hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381654
hg191654
hg181654
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421625
Supporting Variants
SamplesNA12248
Known GenesADAM22
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)essv5132055
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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