A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987990



Internal ID12625734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:33666661..33950107hg38UCSC Ensembl
Innerchr8:33524179..33807625hg19UCSC Ensembl
Innerchr8:33643721..33927167hg18UCSC Ensembl
Innerchr8:33643721..33927167hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38283447
hg19283447
hg18283447
hg17283447
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)essv6987990
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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