A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651804



Internal ID14752490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133354160..133354561hg38UCSC Ensembl
Innerchr11:133354160..133354561hg38UCSC Ensembl
Outerchr11:133353387..133355251hg38UCSC Ensembl
chr11:133224055..133224456hg19UCSC Ensembl
Innerchr11:133224055..133224456hg19UCSC Ensembl
Outerchr11:133223282..133225146hg19UCSC Ensembl
chr11:132729265..132729666hg18UCSC Ensembl
Innerchr11:132729265..132729666hg18UCSC Ensembl
Outerchr11:132728492..132730356hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38402
hg19402
hg18402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3395897
Supporting Variants
SamplesNA19240
Known GenesOPCML
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651804
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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