A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13150570



Internal ID3152386
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616718
Supporting Variants
SamplesNA19782
Known GenesPTK2B, TRIM35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13150570
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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