A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615838



Internal ID7002726
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13061692
SamplesNA19058
Known GenesDLGAP2, LOC100507435
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615838
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer