A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14184863



Internal ID4186679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63687487..63692635hg38UCSC Ensembl
Innerchr11:63687487..63692635hg38UCSC Ensembl
Outerchr11:63687372..63692762hg38UCSC Ensembl
chr11:63454959..63460107hg19UCSC Ensembl
Innerchr11:63454959..63460107hg19UCSC Ensembl
Outerchr11:63454844..63460234hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg385149
hg195149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626650
Supporting Variants
SamplesNA19380
Known GenesRTN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14184863
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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