A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5024496



Internal ID8140719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:62303056..62311526hg38UCSC Ensembl
Innerchr8:63215615..63224085hg19UCSC Ensembl
Innerchr8:63378169..63386639hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg388471
hg198471
hg188471
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421340
Supporting Variants
SamplesNA18860
Known GenesNKAIN3
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)essv5024496
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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