A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615908



Internal ID7002796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3586401..3592936hg38UCSC Ensembl
Innerchr8:3586410..3592928hg38UCSC Ensembl
Outerchr8:3586393..3592945hg38UCSC Ensembl
chr8:3443923..3450458hg19UCSC Ensembl
Innerchr8:3443932..3450450hg19UCSC Ensembl
Outerchr8:3443915..3450467hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg386536
hg196536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13070852, essv13070854, essv13070856, essv13070850, essv13070859, essv13070848, essv13070847, essv13070858, essv13070857, essv13070860, essv13070855, essv13070849, essv13070851, essv13070853
SamplesHG03589, NA20861, HG03808, HG04182, NA21103, NA20896, HG03585, NA21118, NA20903, NA20881, HG04093, HG03872, HG03882, HG03955
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615908
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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