A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390953



Internal ID14891234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135832347..135832379hg38UCSC Ensembl
Innerchr9:135832298..135832428hg38UCSC Ensembl
Outerchr9:135832266..135832460hg38UCSC Ensembl
chr9:138724193..138724225hg19UCSC Ensembl
Innerchr9:138724144..138724274hg19UCSC Ensembl
Outerchr9:138724112..138724306hg19UCSC Ensembl
chr9:137864014..137864046hg18UCSC Ensembl
Innerchr9:137864095..137863965hg18UCSC Ensembl
Outerchr9:137863933..137864127hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864986
SamplesNA12005
Known GenesCAMSAP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390953
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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