A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671253



Internal ID15059967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100871361..100871717hg38UCSC Ensembl
Innerchr5:100871499..100871579hg38UCSC Ensembl
Outerchr5:100871223..100871855hg38UCSC Ensembl
chr5:100207065..100207421hg19UCSC Ensembl
Innerchr5:100207203..100207283hg19UCSC Ensembl
Outerchr5:100206927..100207559hg19UCSC Ensembl
chr5:100234964..100235320hg18UCSC Ensembl
Innerchr5:100235102..100235182hg18UCSC Ensembl
Outerchr5:100234826..100235458hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38357
hg19357
hg18357
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3401406
Supporting Variants
SamplesNA19239
Known GenesST8SIA4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671253
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