A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377711



Internal ID14877978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137669297..137669402hg38UCSC Ensembl
Innerchr9:137669297..137669402hg38UCSC Ensembl
Outerchr9:137667871..137670637hg38UCSC Ensembl
chr9:140563749..140563854hg19UCSC Ensembl
Innerchr9:140563749..140563854hg19UCSC Ensembl
Outerchr9:140562323..140565089hg19UCSC Ensembl
chr9:139683570..139683675hg18UCSC Ensembl
Innerchr9:139683570..139683675hg18UCSC Ensembl
Outerchr9:139682144..139684910hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38106
hg19106
hg18106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652431
SamplesNA19240
Known GenesEHMT1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377711
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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