A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13215968



Internal ID3217784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67059873..67143036hg38UCSC Ensembl
chr8:67972108..68055271hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3883164
hg1983164
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617494
Supporting Variants
SamplesHG01868
Known GenesCOPS5, CSPP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13215968
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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