A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694580



Internal ID15013421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137697164..137697462hg38UCSC Ensembl
Innerchr5:137697163..137697463hg38UCSC Ensembl
Outerchr5:137696164..137698462hg38UCSC Ensembl
chr5:137032853..137033151hg19UCSC Ensembl
Innerchr5:137032852..137033152hg19UCSC Ensembl
Outerchr5:137031853..137034151hg19UCSC Ensembl
chr5:137060752..137061050hg18UCSC Ensembl
Innerchr5:137061051..137060751hg18UCSC Ensembl
Outerchr5:137059752..137062050hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3370006
Supporting Variants
SamplesNA19238
Known GenesKLHL3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694580
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer