A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675913



Internal ID13295621
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 StatusS
Merged Variantsesv3408076
Supporting Variants
SamplesNA12878
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675913
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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