A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431076



Internal ID15278032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143610032..143610056hg38UCSC Ensembl
Innerchr5:143609994..143610094hg38UCSC Ensembl
Outerchr5:143609970..143610118hg38UCSC Ensembl
chr5:142989597..142989621hg19UCSC Ensembl
Innerchr5:142989559..142989659hg19UCSC Ensembl
Outerchr5:142989535..142989683hg19UCSC Ensembl
chr5:142969790..142969814hg18UCSC Ensembl
Innerchr5:142969852..142969752hg18UCSC Ensembl
Outerchr5:142969728..142969876hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864521
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431076
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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