A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985256



Internal ID12636322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129382454..129486723hg38UCSC Ensembl
Innerchr5:128718147..128822416hg19UCSC Ensembl
Innerchr5:128746046..128850315hg18UCSC Ensembl
Innerchr5:128746046..128850315hg17UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38104270
hg19104270
hg18104270
hg17104270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752060
Supporting Variants
SamplesSPC_13
Known GenesADAMTS19, MIR4460
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985256
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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