A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3408076



Internal ID14908352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33797447..33797457hg38UCSC Ensembl
Innerchr5:33797443..33797459hg38UCSC Ensembl
Outerchr5:33797433..33797471hg38UCSC Ensembl
chr5:33797552..33797562hg19UCSC Ensembl
Innerchr5:33797548..33797564hg19UCSC Ensembl
Outerchr5:33797538..33797576hg19UCSC Ensembl
chr5:33833309..33833319hg18UCSC Ensembl
Innerchr5:33833321..33833305hg18UCSC Ensembl
Outerchr5:33833295..33833333hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg386029
hg196029
hg186029
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675913, essv8675912, essv8675914
SamplesNA12892, NA12891, NA12878
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3408076
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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