A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893572



Internal ID18837706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232404005..232444838hg38UCSC Ensembl
Outerchr2:232404005..232444838hg38UCSC Ensembl
Innerchr2:233268715..233309548hg19UCSC Ensembl
Outerchr2:233268715..233309548hg19UCSC Ensembl
Innerchr2:232976959..233017792hg18UCSC Ensembl
Outerchr2:232976959..233017792hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3840834
hg1940834
hg1840834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783027
Samples
Known GenesALPPL2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893572
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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