A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651802



Internal ID14752958
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 StatusS
Merged Variantsesv3369393
Supporting Variants
SamplesNA19240
Known GenesNTM
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651802
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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