A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694694



Internal ID13696210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181463745..181478243hg38UCSC Ensembl
Innerchr5:181464745..181477243hg38UCSC Ensembl
Outerchr5:181462745..181478259hg38UCSC Ensembl
chr5:180890746..180905244hg19UCSC Ensembl
Innerchr5:180891746..180904244hg19UCSC Ensembl
Outerchr5:180889746..180905260hg19UCSC Ensembl
chr5:180823352..180837850hg18UCSC Ensembl
Innerchr5:180824352..180836850hg18UCSC Ensembl
Outerchr5:180822352..180838850hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3814499
hg1914499
hg1814499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3425517
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694694
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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