A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892237



Internal ID18836371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:51020156..51130764hg38UCSC Ensembl
Outerchr2:51020156..51130764hg38UCSC Ensembl
Innerchr2:51247294..51357902hg19UCSC Ensembl
Outerchr2:51247294..51357902hg19UCSC Ensembl
Innerchr2:51100798..51211406hg18UCSC Ensembl
Outerchr2:51100798..51211406hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38110609
hg19110609
hg18110609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785170
Samples
Known GenesNRXN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892237
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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