A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792621



Internal ID18816611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:988113..1228100hg38UCSC Ensembl
Innerchr5:988228..1228215hg19UCSC Ensembl
Innerchr5:1041228..1281215hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38239988
hg19239988
hg18239988
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894109
Supporting Variants
Samples
Known GenesLOC100506688, MIR4635, NKD2, SLC12A7, SLC6A18, SLC6A19
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=60
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792621
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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