A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891261



Internal ID18838971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2700967..3236463hg38UCSC Ensembl
Outerchr8:2316229..3462226hg38UCSC Ensembl
Innerchr8:2558468..3093985hg19UCSC Ensembl
Outerchr8:2262284..3319748hg19UCSC Ensembl
Innerchr8:2545875..3081392hg18UCSC Ensembl
Outerchr8:2249691..3307156hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381145998
hg191057465
hg181057466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791555, essv25791166, essv25791448, essv25788456
Samples
Known GenesCSMD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891261
Frequency
Sample Size3017
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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