A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369393



Internal ID14869652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132125249..132126240hg38UCSC Ensembl
Innerchr11:132125249..132126240hg38UCSC Ensembl
Outerchr11:132124922..132127038hg38UCSC Ensembl
chr11:131995143..131996134hg19UCSC Ensembl
Innerchr11:131995143..131996134hg19UCSC Ensembl
Outerchr11:131994816..131996932hg19UCSC Ensembl
chr11:131500353..131501344hg18UCSC Ensembl
Innerchr11:131500353..131501344hg18UCSC Ensembl
Outerchr11:131500026..131502142hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38992
hg19992
hg18992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651802
SamplesNA19240
Known GenesNTM
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369393
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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