A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789901



Internal ID18814390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37689626..37790130hg38UCSC Ensembl
Innerchr9:37689623..37790127hg19UCSC Ensembl
Innerchr9:37679623..37780127hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38100505
hg19100505
hg18100505
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891658
Supporting Variants
Samples
Known GenesEXOSC3, FRMPD1, TRMT10B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=34
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789901
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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