A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13201687



Internal ID3203503
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617224
Supporting Variants
SamplesNA20806
Known GenesNPBWR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13201687
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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