A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427087



Internal ID15274043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88676567..88676575hg38UCSC Ensembl
Innerchr5:88676569..88676573hg38UCSC Ensembl
Outerchr5:88676565..88676577hg38UCSC Ensembl
chr5:87972385..87972393hg19UCSC Ensembl
Innerchr5:87972387..87972391hg19UCSC Ensembl
Outerchr5:87972383..87972395hg19UCSC Ensembl
chr5:88008141..88008149hg18UCSC Ensembl
Innerchr5:88008143..88008147hg18UCSC Ensembl
Outerchr5:88008139..88008151hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864485, essv7864484
SamplesNA12005, NA18871
Known GenesLINC00461
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427087
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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