A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14302211



Internal ID4304027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124787891..124792303hg38UCSC Ensembl
Innerchr11:124787896..124792298hg38UCSC Ensembl
Outerchr11:124787886..124792308hg38UCSC Ensembl
chr11:124657787..124662199hg19UCSC Ensembl
Innerchr11:124657792..124662194hg19UCSC Ensembl
Outerchr11:124657782..124662204hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg384413
hg194413
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627988
Supporting Variants
SamplesNA19006
Known GenesMSANTD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14302211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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