A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808838



Internal ID13299322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14595508..14596176hg38UCSC Ensembl
Innerchr19:14595507..14596177hg38UCSC Ensembl
Outerchr19:14595398..14596296hg38UCSC Ensembl
chr19:14706320..14706988hg19UCSC Ensembl
Innerchr19:14706319..14706989hg19UCSC Ensembl
Outerchr19:14706210..14707108hg19UCSC Ensembl
chr19:14567320..14567988hg18UCSC Ensembl
Innerchr19:14567989..14567319hg18UCSC Ensembl
Outerchr19:14567210..14568108hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38669
hg19669
hg18669
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381235
Supporting Variants
SamplesNA12878
Known GenesCLEC17A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808838
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