A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13369077



Internal ID3370893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144500159..144504908hg38UCSC Ensembl
chr8:145725542..145730291hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384750
hg194750
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619130
Supporting Variants
SamplesNA19213
Known GenesGPT, PPP1R16A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13369077
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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