A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292704



Internal ID4294520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117525786..117530473hg38UCSC Ensembl
Innerchr11:117525786..117530473hg38UCSC Ensembl
Outerchr11:117525668..117530586hg38UCSC Ensembl
chr11:117396501..117401188hg19UCSC Ensembl
Innerchr11:117396501..117401188hg19UCSC Ensembl
Outerchr11:117396383..117401301hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg384688
hg194688
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627856
Supporting Variants
SamplesHG03917
Known GenesDSCAML1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292704
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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