A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385605



Internal ID15232575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64413462..64427444hg38UCSC Ensembl
Innerchr9:64414467..64426443hg38UCSC Ensembl
Outerchr9:64412462..64428444hg38UCSC Ensembl
chr9:43075656..43089654hg19UCSC Ensembl
Innerchr9:43076656..43088654hg19UCSC Ensembl
Outerchr9:43074656..43090654hg19UCSC Ensembl
chr9:43065652..43079650hg18UCSC Ensembl
Innerchr9:43066652..43078650hg18UCSC Ensembl
Outerchr9:43064652..43080650hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3813983
hg1913999
hg1813999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696824
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385605
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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