A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25801589



Internal ID18815045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39846889..40072324hg38UCSC Ensembl
Innerchr2:40074029..40299464hg19UCSC Ensembl
Innerchr2:39927533..40152968hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38225436
hg19225436
hg18225436
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 HumanHap 610
CommentsNumber of probes=66
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25801589
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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