A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987760



Internal ID12978170
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 StatusS
Merged Variantsesv34881
Supporting Variants
SamplesNA07029
Known GenesMIR4460
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987760
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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