A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690852



Internal ID14713597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45512103..45520201hg38UCSC Ensembl
Innerchr17:45513103..45519201hg38UCSC Ensembl
Outerchr17:45511103..45521201hg38UCSC Ensembl
chr17:43589469..43597567hg19UCSC Ensembl
Innerchr17:43590469..43596567hg19UCSC Ensembl
Outerchr17:43588469..43598567hg19UCSC Ensembl
chr17:40945252..40953350hg18UCSC Ensembl
Innerchr17:40946252..40952350hg18UCSC Ensembl
Outerchr17:40944252..40954350hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388099
hg198099
hg188099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3402129
Supporting Variants
SamplesNA19239
Known GenesLRRC37A4P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690852
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