A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347394



Internal ID15194376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53537390..53537418hg38UCSC Ensembl
Innerchr5:53537392..53537416hg38UCSC Ensembl
Outerchr5:53537388..53537420hg38UCSC Ensembl
chr5:52833220..52833248hg19UCSC Ensembl
Innerchr5:52833222..52833246hg19UCSC Ensembl
Outerchr5:52833218..52833250hg19UCSC Ensembl
chr5:52868977..52869005hg18UCSC Ensembl
Innerchr5:52868979..52869003hg18UCSC Ensembl
Outerchr5:52868975..52869007hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864449
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347394
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