A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978068



Internal ID12631878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14773420..15802120hg38UCSC Ensembl
Innerchr8:14630929..15659629hg19UCSC Ensembl
Innerchr8:14675300..15704000hg18UCSC Ensembl
Innerchr8:14675300..15704000hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381028701
hg191028701
hg181028701
hg171028701
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)essv6978068
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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