A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13080372



Internal ID3082188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6548175..6638852hg38UCSC Ensembl
chr8:6405696..6496373hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3890678
hg1990678
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616094
Supporting Variants
SamplesNA19331
Known GenesANGPT2, MCPH1, MIR8055
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13080372
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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