A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34616



Internal ID12990652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14773418..15806518hg38UCSC Ensembl
Innerchr8:14630927..15664027hg19UCSC Ensembl
Innerchr8:14675298..15708398hg18UCSC Ensembl
Innerchr8:14675298..15708398hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381033101
hg191033101
hg181033101
hg171033101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv248e55
Supporting Variantsessv6978068, essv6978067, essv6987317, essv6987318
SamplesNA10863
Known GenesMIR383, SGCZ, TUSC3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34616
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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