A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893515



Internal ID18837649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:181940873..182006405hg38UCSC Ensembl
Outerchr2:181940873..182006405hg38UCSC Ensembl
Innerchr2:182805600..182871132hg19UCSC Ensembl
Outerchr2:182805600..182871132hg19UCSC Ensembl
Innerchr2:182513845..182579377hg18UCSC Ensembl
Outerchr2:182513845..182579377hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3865533
hg1965533
hg1865533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789890
Samples
Known GenesPPP1R1C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893515
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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