A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796900



Internal ID18834598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39843084..40070631hg38UCSC Ensembl
Innerchr2:40070224..40297771hg19UCSC Ensembl
Innerchr2:39923728..40151275hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38227548
hg19227548
hg18227548
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891871
Supporting Variants
Samples
Known GenesSLC8A1-AS1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=58
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796900
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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