A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790495



Internal ID18819314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:116905706..117032710hg38UCSC Ensembl
Innerchr7:116545760..116672764hg19UCSC Ensembl
Innerchr7:116332996..116460000hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38127005
hg19127005
hg18127005
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891196
Supporting Variants
Samples
Known GenesCAPZA2, MIR6132, ST7, ST7-AS1, ST7-OT4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=23
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790495
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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