A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789615



Internal ID18818699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232339649..232438423hg38UCSC Ensembl
Innerchr2:233204359..233303133hg19UCSC Ensembl
Innerchr2:232912603..233011377hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3898775
hg1998775
hg1898775
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893570
Supporting Variants
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=23
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789615
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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