A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214076



Internal ID6616280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75977774..76021163hg38UCSC Ensembl
Innerchr11:75977774..76021163hg38UCSC Ensembl
Outerchr11:75977274..76021663hg38UCSC Ensembl
chr11:75688818..75732207hg19UCSC Ensembl
Innerchr11:75688818..75732207hg19UCSC Ensembl
Outerchr11:75688318..75732707hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3843390
hg1943390
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626863
Supporting Variants
SamplesNA20783
Known GenesUVRAG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214076
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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