A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7760081



Internal ID13438219
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 StatusS
Merged Variantsesv3305921
Supporting Variants
SamplesNA18501
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7760081
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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