A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427501



Internal ID14927771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132495016..132495030hg38UCSC Ensembl
Innerchr11:132495018..132495028hg38UCSC Ensembl
Outerchr11:132495014..132495032hg38UCSC Ensembl
chr11:132364910..132364924hg19UCSC Ensembl
Innerchr11:132364912..132364922hg19UCSC Ensembl
Outerchr11:132364908..132364926hg19UCSC Ensembl
chr11:131870120..131870134hg18UCSC Ensembl
Innerchr11:131870122..131870132hg18UCSC Ensembl
Outerchr11:131870118..131870136hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865543
SamplesNA12005
Known GenesOPCML
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427501
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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