A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617224



Internal ID6657420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52910629..52967647hg38UCSC Ensembl
chr8:53823189..53880207hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3857019
hg1957019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13201686, essv13201687
SamplesNA20806, HG03461
Known GenesNPBWR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617224
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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