A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14311362



Internal ID6060877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130056725..130063209hg38UCSC Ensembl
Innerchr11:130056728..130063206hg38UCSC Ensembl
Outerchr11:130056722..130063212hg38UCSC Ensembl
chr11:129926620..129933104hg19UCSC Ensembl
Innerchr11:129926623..129933101hg19UCSC Ensembl
Outerchr11:129926617..129933107hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg386485
hg196485
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628076
Supporting Variants
SamplesNA19454
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14311362
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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