A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5125903



Internal ID8190024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375220..39529446hg38UCSC Ensembl
Innerchr8:39232739..39386965hg19UCSC Ensembl
Innerchr8:39351896..39506122hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38154227
hg19154227
hg18154227
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421469
Supporting Variants
SamplesNA19720
Known GenesADAM3A, ADAM5
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)essv5125903
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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