A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5102357



Internal ID7846215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27494808..27501613hg38UCSC Ensembl
Innerchr12:27647741..27654546hg19UCSC Ensembl
Innerchr12:27539008..27545813hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386806
hg196806
hg186806
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421622
Supporting Variants
SamplesNA19115
Known GenesSMCO2
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)essv5102357
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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