A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978758



Internal ID12632382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14896187..15801565hg38UCSC Ensembl
Innerchr8:14753696..15659074hg19UCSC Ensembl
Innerchr8:14798067..15703445hg18UCSC Ensembl
Innerchr8:14798067..15703445hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38905379
hg19905379
hg18905379
hg17905379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34951
Supporting Variants
SamplesNA12234
Known GenesSGCZ, TUSC3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978758
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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