A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331777



Internal ID15178766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173765543..173766641hg38UCSC Ensembl
Innerchr5:173765641..173766543hg38UCSC Ensembl
Outerchr5:173764543..173767641hg38UCSC Ensembl
chr5:173192546..173193644hg19UCSC Ensembl
Innerchr5:173192644..173193546hg19UCSC Ensembl
Outerchr5:173191546..173194644hg19UCSC Ensembl
chr5:173125152..173126250hg18UCSC Ensembl
Innerchr5:173126152..173125250hg18UCSC Ensembl
Outerchr5:173124152..173127250hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694646
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331777
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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