A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617505



Internal ID7004390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67564544..67574768hg38UCSC Ensembl
Innerchr8:67564575..67574738hg38UCSC Ensembl
Outerchr8:67564514..67574799hg38UCSC Ensembl
chr8:68476779..68487003hg19UCSC Ensembl
Innerchr8:68476810..68486973hg19UCSC Ensembl
Outerchr8:68476749..68487034hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3810225
hg1910225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13216303, essv13216301, essv13216302
SamplesHG04094, HG03922, HG03989
Known GenesCPA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617505
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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