A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305921



Internal ID14806183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33833487..33833488hg38UCSC Ensembl
Innerchr5:33833456..33833519hg38UCSC Ensembl
Outerchr5:33833455..33833520hg38UCSC Ensembl
chr5:33833592..33833593hg19UCSC Ensembl
Innerchr5:33833561..33833624hg19UCSC Ensembl
Outerchr5:33833560..33833625hg19UCSC Ensembl
chr5:33869349..33869350hg18UCSC Ensembl
Innerchr5:33869381..33869318hg18UCSC Ensembl
Outerchr5:33869317..33869382hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760081, essv7754726, essv7741761
SamplesNA18861, NA18501, NA18502
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305921
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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