A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13095146



Internal ID3096962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9149682..9334575hg38UCSC Ensembl
chr8:9007192..9192085hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38184894
hg19184894
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616167
Supporting Variants
SamplesHG04106
Known GenesLOC157273, PPP1R3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13095146
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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