A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809309



Internal ID13650769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174743011..174743519hg38UCSC Ensembl
Innerchr5:174743010..174743520hg38UCSC Ensembl
Outerchr5:174742901..174743639hg38UCSC Ensembl
chr5:174170014..174170522hg19UCSC Ensembl
Innerchr5:174170013..174170523hg19UCSC Ensembl
Outerchr5:174169904..174170642hg19UCSC Ensembl
chr5:174102620..174103128hg18UCSC Ensembl
Innerchr5:174103129..174102619hg18UCSC Ensembl
Outerchr5:174102510..174103248hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38509
hg19509
hg18509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397266
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809309
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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