A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411553



Internal ID15258513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177616109..177616135hg38UCSC Ensembl
Innerchr5:177616111..177616133hg38UCSC Ensembl
Outerchr5:177616107..177616137hg38UCSC Ensembl
chr5:177043110..177043136hg19UCSC Ensembl
Innerchr5:177043112..177043134hg19UCSC Ensembl
Outerchr5:177043108..177043138hg19UCSC Ensembl
chr5:176975716..176975742hg18UCSC Ensembl
Innerchr5:176975718..176975740hg18UCSC Ensembl
Outerchr5:176975714..176975744hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864545
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411553
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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