A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6231323



Internal ID9208726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117793801..117797707hg38UCSC Ensembl
Outerchr11:117793430..117798077hg38UCSC Ensembl
Innerchr11:117664516..117668422hg19UCSC Ensembl
Outerchr11:117664145..117668792hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384648
hg194648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657601
Supporting Variants
SamplesHG00122
Known GenesDSCAML1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6231323
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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