A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376131



Internal ID15223104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74423209..74423228hg38UCSC Ensembl
Innerchr5:74423214..74423223hg38UCSC Ensembl
Outerchr5:74423195..74423242hg38UCSC Ensembl
chr5:73719034..73719053hg19UCSC Ensembl
Innerchr5:73719039..73719048hg19UCSC Ensembl
Outerchr5:73719020..73719067hg19UCSC Ensembl
chr5:73754790..73754809hg18UCSC Ensembl
Innerchr5:73754804..73754795hg18UCSC Ensembl
Outerchr5:73754776..73754823hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924908, essv8924911, essv8924912, essv8924910, essv8924909, essv8924907, essv8924906
SamplesNA11830, NA12045, NA12249, NA18555, NA07037, NA06986, NA12776
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376131
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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