A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791143



Internal ID19166948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71073570..71368836hg38UCSC Ensembl
Innerchr5:70369397..70664663hg19UCSC Ensembl
Innerchr5:70405153..70700419hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38295267
hg19295267
hg18295267
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890655
Supporting Variants
Samples
Known GenesGUSBP9, LOC647859, NAIP
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=43
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791143
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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