A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616718



Internal ID7003604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27303974..27359396hg38UCSC Ensembl
Innerchr8:27304124..27359246hg38UCSC Ensembl
Outerchr8:27303824..27359546hg38UCSC Ensembl
chr8:27161491..27216913hg19UCSC Ensembl
Innerchr8:27161641..27216763hg19UCSC Ensembl
Outerchr8:27161341..27217063hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3855423
hg1955423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1390e214
Supporting Variantsessv13150570, essv13150569
SamplesNA19782, HG01596
Known GenesPTK2B, TRIM35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616718
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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