A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14176242



Internal ID3015566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60683580..60684323hg38UCSC Ensembl
Innerchr11:60683580..60684323hg38UCSC Ensembl
Outerchr11:60683356..60684588hg38UCSC Ensembl
chr11:60451053..60451796hg19UCSC Ensembl
Innerchr11:60451053..60451796hg19UCSC Ensembl
Outerchr11:60450829..60452061hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626565
Supporting Variants
SamplesHG02655
Known GenesLINC00301
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14176242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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