A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14310276



Internal ID5609962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129754466..129785173hg38UCSC Ensembl
Innerchr11:129754466..129785173hg38UCSC Ensembl
Outerchr11:129753966..129785673hg38UCSC Ensembl
chr11:129624361..129655068hg19UCSC Ensembl
Innerchr11:129624361..129655068hg19UCSC Ensembl
Outerchr11:129623861..129655568hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3830708
hg1930708
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628072
Supporting Variants
SamplesNA19038
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14310276
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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