A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793056



Internal ID18822715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12213879..13226946hg38UCSC Ensembl
Innerchr9:12213879..13226945hg19UCSC Ensembl
Innerchr9:12203879..13216945hg18UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg381013068
hg191013067
hg181013067
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891612
Supporting Variants
Samples
Known GenesLURAP1L, MPDZ, TYRP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=316
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793056
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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