A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987317



Internal ID12631873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14773418..15787531hg38UCSC Ensembl
Innerchr8:14630927..15645040hg19UCSC Ensembl
Innerchr8:14675298..15689411hg18UCSC Ensembl
Innerchr8:14675298..15689411hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381014114
hg191014114
hg181014114
hg171014114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34616
Supporting Variants
SamplesNA10863
Known GenesMIR383, SGCZ, TUSC3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987317
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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