A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13080310



Internal ID3780815
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616079
Supporting Variants
SamplesHG03432
Known GenesLOC100287015
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13080310
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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