A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444259



Internal ID15291212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83020424..83020444hg38UCSC Ensembl
Innerchr5:83020421..83020445hg38UCSC Ensembl
Outerchr5:83020401..83020467hg38UCSC Ensembl
chr5:82316243..82316263hg19UCSC Ensembl
Innerchr5:82316240..82316264hg19UCSC Ensembl
Outerchr5:82316220..82316286hg19UCSC Ensembl
chr5:82351999..82352019hg18UCSC Ensembl
Innerchr5:82352020..82351996hg18UCSC Ensembl
Outerchr5:82351976..82352042hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676029, essv8676030
SamplesNA12891, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444259
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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