A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308510



Internal ID14808773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33633230..33633231hg38UCSC Ensembl
Innerchr5:33633202..33633259hg38UCSC Ensembl
Outerchr5:33633201..33633260hg38UCSC Ensembl
chr5:33633335..33633336hg19UCSC Ensembl
Innerchr5:33633307..33633364hg19UCSC Ensembl
Outerchr5:33633306..33633365hg19UCSC Ensembl
chr5:33669092..33669093hg18UCSC Ensembl
Innerchr5:33669121..33669064hg18UCSC Ensembl
Outerchr5:33669063..33669122hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38622
hg19622
hg18622
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839014, essv7836917, essv7837475
SamplesNA19239, NA19238, NA19240
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308510
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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