A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891871



Internal ID18839581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39846889..40070631hg38UCSC Ensembl
Outerchr2:39843084..40072324hg38UCSC Ensembl
Innerchr2:40074029..40297771hg19UCSC Ensembl
Outerchr2:40070224..40299464hg19UCSC Ensembl
Innerchr2:39927533..40151275hg18UCSC Ensembl
Outerchr2:39923728..40152968hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38229241
hg19229241
hg18229241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796900, essv25801589
Samples
Known GenesSLC8A1-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891871
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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