A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891373



Internal ID18839083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:20127871..20164145hg38UCSC Ensembl
Outerchr8:20127871..20164378hg38UCSC Ensembl
Innerchr8:19985382..20021656hg19UCSC Ensembl
Outerchr8:19985382..20021889hg19UCSC Ensembl
Innerchr8:20029662..20065936hg18UCSC Ensembl
Outerchr8:20029662..20066169hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3836508
hg1936508
hg1836508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25778258, essv25799653, essv25797671, essv25779873
Samples
Known GenesSLC18A1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891373
Frequency
Sample Size3017
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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