A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14301616



Internal ID511146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124207969..124208602hg38UCSC Ensembl
Innerchr11:124207969..124208602hg38UCSC Ensembl
Outerchr11:124207846..124208921hg38UCSC Ensembl
chr11:124078676..124079309hg19UCSC Ensembl
Innerchr11:124078676..124079309hg19UCSC Ensembl
Outerchr11:124078553..124079628hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38634
hg19634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627972
Supporting Variants
SamplesHG00182
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14301616
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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