A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893517



Internal ID18837651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183132715..185153315hg38UCSC Ensembl
Outerchr2:182920870..185314087hg38UCSC Ensembl
Innerchr2:183997443..186018042hg19UCSC Ensembl
Outerchr2:183785598..186178814hg19UCSC Ensembl
Innerchr2:183705688..185726287hg18UCSC Ensembl
Outerchr2:183493843..185887059hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382393218
hg192393217
hg182393217
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780732, essv25791564
Samples
Known GenesDUSP19, NCKAP1, NUP35, ZNF804A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893517
Frequency
Sample Size3017
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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