A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14285222



Internal ID4287038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:110196204..110197430hg38UCSC Ensembl
Innerchr11:110196254..110197380hg38UCSC Ensembl
Outerchr11:110196090..110197544hg38UCSC Ensembl
chr11:110066929..110068155hg19UCSC Ensembl
Innerchr11:110066979..110068105hg19UCSC Ensembl
Outerchr11:110066815..110068269hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627716
Supporting Variants
SamplesNA20589
Known GenesRDX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14285222
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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