A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347257



Internal ID15194239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:65259474..65274883hg38UCSC Ensembl
Innerchr9:65260478..65273883hg38UCSC Ensembl
Outerchr9:65258524..65275883hg38UCSC Ensembl
chr9:42727556..42742954hg19UCSC Ensembl
Innerchr9:42728556..42741954hg19UCSC Ensembl
Outerchr9:42726556..42743954hg19UCSC Ensembl
chr9:42717552..42732950hg18UCSC Ensembl
Innerchr9:42718552..42731950hg18UCSC Ensembl
Outerchr9:42716552..42733950hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3815410
hg1915399
hg1815399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4338e59
Supporting Variantsessv8696749
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347257
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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