A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5699313



Internal ID8676716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42353355..42355285hg38UCSC Ensembl
chr8:42210873..42212803hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381931
hg191931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661547
Supporting Variants
SamplesNA20512
Known GenesPOLB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5699313
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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