A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13080309



Internal ID1920541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6262960..6405804hg38UCSC Ensembl
chr8:6120481..6263325hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38142845
hg19142845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616079
Supporting Variants
SamplesHG01796
Known GenesLOC100287015
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13080309
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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