A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13061692



Internal ID3063517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1570422..1703429hg38UCSC Ensembl
chr8:1518588..1651595hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38133008
hg19133008
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615838
Supporting Variants
SamplesNA19058
Known GenesDLGAP2, LOC100507435
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13061692
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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