A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34788



Internal ID12990824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49960687..50052878hg38UCSC Ensembl
Innerchr8:50873247..50965438hg19UCSC Ensembl
Innerchr8:51035800..51127991hg18UCSC Ensembl
Innerchr8:51035800..51127991hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3892192
hg1992192
hg1892192
hg1792192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978411, essv6978410
SamplesNA19093
Known GenesSNTG1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34788
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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