A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34951



Internal ID12990987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14773418..15802120hg38UCSC Ensembl
Innerchr8:14630927..15659629hg19UCSC Ensembl
Innerchr8:14675298..15704000hg18UCSC Ensembl
Innerchr8:14675298..15704000hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381028703
hg191028703
hg181028703
hg171028703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv248e55
Supporting Variantsessv6988042, essv6978757, essv6988043, essv6978759, essv6978760, essv6978758, essv6989042
SamplesNA12234
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)esv34951
Frequency
Sample Size771
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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