A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893570



Internal ID18837704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232354184..232404005hg38UCSC Ensembl
Outerchr2:232339649..232450598hg38UCSC Ensembl
Innerchr2:233218894..233268715hg19UCSC Ensembl
Outerchr2:233204359..233315308hg19UCSC Ensembl
Innerchr2:232927138..232976959hg18UCSC Ensembl
Outerchr2:232912603..233023552hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38110950
hg19110950
hg18110950
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792829, essv25782893, essv25788496, essv25789615, essv25789635
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893570
Frequency
Sample Size3017
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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