A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690827



Internal ID15060137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40522674..40524072hg38UCSC Ensembl
Innerchr17:40523072..40523674hg38UCSC Ensembl
Outerchr17:40521674..40525072hg38UCSC Ensembl
chr17:38678926..38680324hg19UCSC Ensembl
Innerchr17:38679324..38679926hg19UCSC Ensembl
Outerchr17:38677926..38681324hg19UCSC Ensembl
chr17:35932452..35933850hg18UCSC Ensembl
Innerchr17:35933452..35932850hg18UCSC Ensembl
Outerchr17:35931452..35934850hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369555
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690827
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