A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626565



Internal ID7013397
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14176241, essv14176238, essv14176234, essv14176239, essv14176236, essv14176246, essv14176247, essv14176248, essv14176237, essv14176245, essv14176240, essv14176235, essv14176243, essv14176244, essv14176233, essv14176242
SamplesHG00143, NA12414, HG01280, NA12004, HG01632, HG02655, HG01501, NA12342, HG00344, HG01077, NA20832, HG01323, HG02223, NA20502, HG01464, NA12154
Known GenesLINC00301
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626565
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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