A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349809



Internal ID15196791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8229420..8230718hg38UCSC Ensembl
Innerchr8:8229718..8230420hg38UCSC Ensembl
Outerchr8:8228420..8231718hg38UCSC Ensembl
chr8:8086942..8088240hg19UCSC Ensembl
Innerchr8:8087240..8087942hg19UCSC Ensembl
Outerchr8:8085942..8089240hg19UCSC Ensembl
chr8:8124352..8125650hg18UCSC Ensembl
Innerchr8:8125352..8124650hg18UCSC Ensembl
Outerchr8:8123352..8126650hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4072e59
Supporting Variantsessv8696479
SamplesNA19239
Known GenesFAM86B3P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349809
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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