A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348138



Internal ID15195120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135886063..135886076hg38UCSC Ensembl
Innerchr9:135886065..135886074hg38UCSC Ensembl
Outerchr9:135886061..135886078hg38UCSC Ensembl
chr9:138777909..138777922hg19UCSC Ensembl
Innerchr9:138777911..138777920hg19UCSC Ensembl
Outerchr9:138777907..138777924hg19UCSC Ensembl
chr9:137917730..137917743hg18UCSC Ensembl
Innerchr9:137917732..137917741hg18UCSC Ensembl
Outerchr9:137917728..137917745hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864988
SamplesNA12005
Known GenesCAMSAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348138
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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