A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788555



Internal ID18813799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110131531..110225473hg38UCSC Ensembl
Innerchr2:110889108..110983050hg19UCSC Ensembl
Innerchr2:110246397..110340339hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3893943
hg1993943
hg1893943
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893070
Supporting Variants
Samples
Known GenesLINC00116, NPHP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788555
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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