A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780831



Internal ID19161168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50636135..50719906hg38UCSC Ensembl
Innerchr2:50863273..50947044hg19UCSC Ensembl
Innerchr2:50716777..50800548hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3883772
hg1983772
hg1883772
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892148
Supporting Variants
Samples
Known GenesNRXN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=37
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780831
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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