A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792829



Internal ID18828022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232339649..232444838hg38UCSC Ensembl
Innerchr2:233204359..233309548hg19UCSC Ensembl
Innerchr2:232912603..233017792hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38105190
hg19105190
hg18105190
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=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792829
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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