A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783027



Internal ID18823108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232404005..232444838hg38UCSC Ensembl
Innerchr2:233268715..233309548hg19UCSC Ensembl
Innerchr2:232976959..233017792hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3840834
hg1940834
hg1840834
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893572
Supporting Variants
Samples
Known GenesALPPL2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783027
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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