A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978411



Internal ID12981912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49960733..50052878hg38UCSC Ensembl
Innerchr8:50873293..50965438hg19UCSC Ensembl
Innerchr8:51035846..51127991hg18UCSC Ensembl
Innerchr8:51035846..51127991hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3892146
hg1992146
hg1892146
hg1792146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34788
Supporting Variants
SamplesNA19093
Known GenesSNTG1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978411
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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