A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450443



Internal ID15297391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93360085..93360125hg38UCSC Ensembl
Innerchr5:93360097..93360110hg38UCSC Ensembl
Outerchr5:93360060..93360150hg38UCSC Ensembl
chr5:92695791..92695831hg19UCSC Ensembl
Innerchr5:92695803..92695816hg19UCSC Ensembl
Outerchr5:92695766..92695856hg19UCSC Ensembl
chr5:92721547..92721587hg18UCSC Ensembl
Innerchr5:92721572..92721559hg18UCSC Ensembl
Outerchr5:92721522..92721612hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38227
hg19227
hg18227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8925624, essv8925623
SamplesNA19190, NA18522
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450443
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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