A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3433325



Internal ID15280281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40239038..40244336hg38UCSC Ensembl
Innerchr9:40240038..40243336hg38UCSC Ensembl
Outerchr9:40238038..40245336hg38UCSC Ensembl
chr9:42384056..42389354hg19UCSC Ensembl
Innerchr9:42385056..42388354hg19UCSC Ensembl
Outerchr9:42383056..42390354hg19UCSC Ensembl
chr9:42374052..42379350hg18UCSC Ensembl
Innerchr9:42375052..42378350hg18UCSC Ensembl
Outerchr9:42373052..42380350hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg385299
hg195299
hg185299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4326e59
Supporting Variantsessv8696701
SamplesNA12892
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3433325
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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