A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5019465



Internal ID7763323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:965716..970002hg38UCSC Ensembl
Innerchr12:1074882..1079168hg19UCSC Ensembl
Innerchr12:945143..949429hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384287
hg194287
hg184287
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422010
Supporting Variants
SamplesNA19118
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)essv5019465
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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