A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688208



Internal ID15010285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133932447..133933145hg38UCSC Ensembl
Innerchr11:133932446..133933146hg38UCSC Ensembl
Outerchr11:133931447..133934145hg38UCSC Ensembl
chr11:133802342..133803040hg19UCSC Ensembl
Innerchr11:133802341..133803041hg19UCSC Ensembl
Outerchr11:133801342..133804040hg19UCSC Ensembl
chr11:133307552..133308250hg18UCSC Ensembl
Innerchr11:133308251..133307551hg18UCSC Ensembl
Outerchr11:133306552..133309250hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381122
Supporting Variants
SamplesNA19238
Known GenesIGSF9B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688208
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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