A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379050



Internal ID15226022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:42639865..42647863hg38UCSC Ensembl
Innerchr9:42640865..42646863hg38UCSC Ensembl
Outerchr9:42638865..42648863hg38UCSC Ensembl
chr9:44323256..44331254hg19UCSC Ensembl
Innerchr9:44324256..44330254hg19UCSC Ensembl
Outerchr9:44322256..44332254hg19UCSC Ensembl
chr9:44263252..44271250hg18UCSC Ensembl
Innerchr9:44264252..44270250hg18UCSC Ensembl
Outerchr9:44262252..44272250hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg387999
hg197999
hg187999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696848
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379050
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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