A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385751



Internal ID15232721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:115521735..115521919hg38UCSC Ensembl
Innerchr11:115521734..115521920hg38UCSC Ensembl
Outerchr11:115521625..115522039hg38UCSC Ensembl
chr11:115392453..115392637hg19UCSC Ensembl
Innerchr11:115392452..115392638hg19UCSC Ensembl
Outerchr11:115392343..115392757hg19UCSC Ensembl
chr11:114897663..114897847hg18UCSC Ensembl
Innerchr11:114897848..114897662hg18UCSC Ensembl
Outerchr11:114897553..114897967hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38185
hg19185
hg18185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8808544
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385751
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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