A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14292703



Internal ID4294519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117456883..117458645hg38UCSC Ensembl
Innerchr11:117456921..117458607hg38UCSC Ensembl
Outerchr11:117456845..117458683hg38UCSC Ensembl
chr11:117327599..117329361hg19UCSC Ensembl
Innerchr11:117327637..117329323hg19UCSC Ensembl
Outerchr11:117327561..117329399hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381763
hg191763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627855
Supporting Variants
SamplesHG01441
Known GenesDSCAML1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14292703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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