A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14288015



Internal ID4289831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113151972..113152936hg38UCSC Ensembl
Innerchr11:113151984..113152925hg38UCSC Ensembl
Outerchr11:113151961..113152948hg38UCSC Ensembl
chr11:113022694..113023658hg19UCSC Ensembl
Innerchr11:113022706..113023647hg19UCSC Ensembl
Outerchr11:113022683..113023670hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38965
hg19965
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627775
Supporting Variants
SamplesNA19437
Known GenesNCAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14288015
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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