A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651801



Internal ID14753033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131680296..131680718hg38UCSC Ensembl
Innerchr11:131680296..131680718hg38UCSC Ensembl
Outerchr11:131680034..131683772hg38UCSC Ensembl
chr11:131550190..131550612hg19UCSC Ensembl
Innerchr11:131550190..131550612hg19UCSC Ensembl
Outerchr11:131549928..131553666hg19UCSC Ensembl
chr11:131055400..131055822hg18UCSC Ensembl
Innerchr11:131055400..131055822hg18UCSC Ensembl
Outerchr11:131055138..131058876hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38423
hg19423
hg18423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3408741
Supporting Variants
SamplesNA19240
Known GenesNTM
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651801
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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