A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357865



Internal ID15204844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128667605..128667605hg38UCSC Ensembl
Innerchr5:128667604..128667606hg38UCSC Ensembl
Outerchr5:128667555..128667655hg38UCSC Ensembl
chr5:128003298..128003298hg19UCSC Ensembl
Innerchr5:128003297..128003299hg19UCSC Ensembl
Outerchr5:128003248..128003348hg19UCSC Ensembl
chr5:128031197..128031197hg18UCSC Ensembl
Innerchr5:128031198..128031196hg18UCSC Ensembl
Outerchr5:128031147..128031247hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381256
hg191256
hg181256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653423, essv8653425, essv8653424
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3357865
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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