A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891379



Internal ID18839089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28770903..28893864hg38UCSC Ensembl
Outerchr8:28770903..28893864hg38UCSC Ensembl
Innerchr8:28628420..28751381hg19UCSC Ensembl
Outerchr8:28628420..28751381hg19UCSC Ensembl
Innerchr8:28684339..28807300hg18UCSC Ensembl
Outerchr8:28684339..28807300hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38122962
hg19122962
hg18122962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790260
Samples
Known GenesHMBOX1, INTS9
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891379
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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