A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865660



Internal ID14646063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49882041..49882061hg38UCSC Ensembl
Innerchr13:49882008..49882094hg38UCSC Ensembl
Outerchr13:49881988..49882114hg38UCSC Ensembl
chr13:50456177..50456197hg19UCSC Ensembl
Innerchr13:50456144..50456230hg19UCSC Ensembl
Outerchr13:50456124..50456250hg19UCSC Ensembl
chr13:49354178..49354198hg18UCSC Ensembl
Innerchr13:49354231..49354145hg18UCSC Ensembl
Outerchr13:49354125..49354251hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325126
Supporting Variants
SamplesNA18961
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865660
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