A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891377



Internal ID18839087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23722497..25043041hg38UCSC Ensembl
Outerchr8:23722497..25043041hg38UCSC Ensembl
Innerchr8:23580010..24900556hg19UCSC Ensembl
Outerchr8:23580010..24900556hg19UCSC Ensembl
Innerchr8:23635955..24956473hg18UCSC Ensembl
Outerchr8:23635955..24956473hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381320545
hg191320547
hg181320519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796921
Samples
Known GenesADAM28, ADAM7, ADAMDEC1, MIR6841, NEFL, NEFM, STC1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891377
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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