A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788621



Internal ID19161402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230331417..230393735hg38UCSC Ensembl
Innerchr2:231196132..231258450hg19UCSC Ensembl
Innerchr2:230904376..230966694hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3862319
hg1962319
hg1862319
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893565
Supporting Variants
Samples
Known GenesSP140L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=26
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788621
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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