A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438514



Internal ID15285467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38134230..38134258hg38UCSC Ensembl
Innerchr5:38134240..38134246hg38UCSC Ensembl
Outerchr5:38134212..38134276hg38UCSC Ensembl
chr5:38134332..38134360hg19UCSC Ensembl
Innerchr5:38134342..38134348hg19UCSC Ensembl
Outerchr5:38134314..38134378hg19UCSC Ensembl
chr5:38170089..38170117hg18UCSC Ensembl
Innerchr5:38170105..38170099hg18UCSC Ensembl
Outerchr5:38170071..38170135hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38243
hg19243
hg18243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924130, essv8924131, essv8924129
SamplesNA18508, NA18498, NA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438514
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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