A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34881



Internal ID12990917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129322738..129427181hg38UCSC Ensembl
Innerchr5:128658431..128762874hg19UCSC Ensembl
Innerchr5:128686330..128790773hg18UCSC Ensembl
Innerchr5:128686330..128790773hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38104444
hg19104444
hg18104444
hg17104444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv206e55
Supporting Variantsessv6980312, essv6980311, essv6987760, essv6987761, essv6980313
SamplesNA07029
Known GenesMIR4460
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)esv34881
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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