A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13246018



Internal ID3247834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85366442..85379406hg38UCSC Ensembl
chr8:86278671..86291635hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3812965
hg1912965
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617875
Supporting Variants
SamplesHG00684
Known GenesCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13246018
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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