A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34680



Internal ID12990716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60997608..61067307hg38UCSC Ensembl
Innerchr3:60983280..61052979hg19UCSC Ensembl
Innerchr3:60958320..61028019hg18UCSC Ensembl
Innerchr3:60958320..61028019hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3869700
hg1969700
hg1869700
hg1769700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979798, essv6979797, essv6988246
SamplesNA18632
Known GenesFHIT
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)esv34680
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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