A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13070851



Internal ID4339670
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615908
Supporting Variants
SamplesHG03882
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13070851
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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