A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5124430



Internal ID7868288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25262655..25335721hg38UCSC Ensembl
Innerchr1:25589146..25662212hg19UCSC Ensembl
Innerchr1:25461733..25534799hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3873067
hg1973067
hg1873067
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421857
Supporting Variants
SamplesNA20317
Known GenesRHD
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)essv5124430
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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