A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785219



Internal ID19166863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230318606..230393735hg38UCSC Ensembl
Innerchr2:231183321..231258450hg19UCSC Ensembl
Innerchr2:230891565..230966694hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3875130
hg1975130
hg1875130
Variant TypeCNV loss
Copy Number1
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=24
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785219
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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