A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334571



Internal ID15181560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135836285..135840283hg38UCSC Ensembl
Innerchr9:135837285..135839283hg38UCSC Ensembl
Outerchr9:135835285..135841283hg38UCSC Ensembl
chr9:138728131..138732129hg19UCSC Ensembl
Innerchr9:138729131..138731129hg19UCSC Ensembl
Outerchr9:138727131..138733129hg19UCSC Ensembl
chr9:137867952..137871950hg18UCSC Ensembl
Innerchr9:137868952..137870950hg18UCSC Ensembl
Outerchr9:137866952..137872950hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696562
SamplesNA19240
Known GenesCAMSAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334571
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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