A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785170



Internal ID18821269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:51020156..51130764hg38UCSC Ensembl
Innerchr2:51247294..51357902hg19UCSC Ensembl
Innerchr2:51100798..51211406hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38110609
hg19110609
hg18110609
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892237
Supporting Variants
Samples
Known GenesNRXN1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785170
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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