A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13216404



Internal ID6092853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67634003..67641448hg38UCSC Ensembl
Innerchr8:67634004..67641448hg38UCSC Ensembl
Outerchr8:67634003..67641449hg38UCSC Ensembl
chr8:68546238..68553683hg19UCSC Ensembl
Innerchr8:68546239..68553683hg19UCSC Ensembl
Outerchr8:68546238..68553684hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg387446
hg197446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617509
Supporting Variants
SamplesNA19472
Known GenesCPA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13216404
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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