A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789890



Internal ID18826840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:181940873..182006405hg38UCSC Ensembl
Innerchr2:182805600..182871132hg19UCSC Ensembl
Innerchr2:182513845..182579377hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3865533
hg1965533
hg1865533
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893515
Supporting Variants
Samples
Known GenesPPP1R1C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789890
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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