A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364818



Internal ID14865078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33633226..33633245hg38UCSC Ensembl
Innerchr5:33633222..33633249hg38UCSC Ensembl
Outerchr5:33633203..33633268hg38UCSC Ensembl
chr5:33633331..33633350hg19UCSC Ensembl
Innerchr5:33633327..33633354hg19UCSC Ensembl
Outerchr5:33633308..33633373hg19UCSC Ensembl
chr5:33669088..33669107hg18UCSC Ensembl
Innerchr5:33669111..33669084hg18UCSC Ensembl
Outerchr5:33669065..33669130hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9621514, essv9621503, essv9621492
SamplesNA07346, NA12872, NA12045
Known GenesADAMTS12
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364818
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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