A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892215



Internal ID18836349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50887566..51133529hg38UCSC Ensembl
Outerchr2:50887566..51133529hg38UCSC Ensembl
Innerchr2:51114704..51360667hg19UCSC Ensembl
Outerchr2:51114704..51360667hg19UCSC Ensembl
Innerchr2:50968208..51214171hg18UCSC Ensembl
Outerchr2:50968208..51214171hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38245964
hg19245964
hg18245964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25778850
Samples
Known GenesNRXN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892215
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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