A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893565



Internal ID19184385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230331417..230393735hg38UCSC Ensembl
Outerchr2:230318606..230393735hg38UCSC Ensembl
Innerchr2:231196132..231258450hg19UCSC Ensembl
Outerchr2:231183321..231258450hg19UCSC Ensembl
Innerchr2:230904376..230966694hg18UCSC Ensembl
Outerchr2:230891565..230966694hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3875130
hg1975130
hg1875130
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785219, essv25788621
Samples
Known GenesSP140L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893565
Frequency
Sample Size3017
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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