A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14296762



Internal ID4298578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122683658..122694511hg38UCSC Ensembl
Innerchr11:122683658..122694511hg38UCSC Ensembl
Outerchr11:122683158..122695011hg38UCSC Ensembl
chr11:122554366..122565219hg19UCSC Ensembl
Innerchr11:122554366..122565219hg19UCSC Ensembl
Outerchr11:122553866..122565719hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3810854
hg1910854
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627945
Supporting Variants
SamplesHG00533
Known GenesUBASH3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14296762
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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