A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990389



Internal ID12980480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:95999340..96089740hg38UCSC Ensembl
Innerchr5:95335044..95425444hg19UCSC Ensembl
Innerchr5:95360800..95451200hg18UCSC Ensembl
Innerchr5:95360800..95451200hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3890401
hg1990401
hg1890401
hg1790401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34203
Supporting Variants
SamplesNA18582
Known GenesMIR583
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990389
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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