A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651822



Internal ID14753230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67233194..67233781hg38UCSC Ensembl
Innerchr11:67233194..67233781hg38UCSC Ensembl
Outerchr11:67232923..67234335hg38UCSC Ensembl
chr11:67000665..67001252hg19UCSC Ensembl
Innerchr11:67000665..67001252hg19UCSC Ensembl
Outerchr11:67000394..67001806hg19UCSC Ensembl
chr11:66757241..66757828hg18UCSC Ensembl
Innerchr11:66757241..66757828hg18UCSC Ensembl
Outerchr11:66756970..66758382hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38588
hg19588
hg18588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3328967
Supporting Variants
SamplesNA19240
Known GenesKDM2A
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651822
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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