A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13373229



Internal ID6920554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:145047982..145078516hg38UCSC Ensembl
chr8:146273368..146303902hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3830535
hg1930535
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619161
Supporting Variants
SamplesNA21117
Known GenesC8orf33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13373229
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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