A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987991



Internal ID12625733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:33773440..33950140hg38UCSC Ensembl
Innerchr8:33630958..33807658hg19UCSC Ensembl
Innerchr8:33750500..33927200hg18UCSC Ensembl
Innerchr8:33750500..33927200hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38176701
hg19176701
hg18176701
hg17176701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752251
Supporting Variants
SamplesBEC_307
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987991
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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