A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994002



Internal ID7062797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375220..39520881hg38UCSC Ensembl
Innerchr8:39232739..39378400hg19UCSC Ensembl
Innerchr8:39351896..39497557hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38145662
hg19145662
hg18145662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181e180
Supporting Variantsessv3586041
SamplesHuRef
Known GenesADAM3A, ADAM5
MethodSNP array
AnalysisPooled samples.
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994002
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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