A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691003



Internal ID15027723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73695618..73697316hg38UCSC Ensembl
Innerchr17:73696316..73696618hg38UCSC Ensembl
Outerchr17:73694618..73698316hg38UCSC Ensembl
chr17:71691757..71693455hg19UCSC Ensembl
Innerchr17:71692455..71692757hg19UCSC Ensembl
Outerchr17:71690757..71694455hg19UCSC Ensembl
chr17:69203352..69205050hg18UCSC Ensembl
Innerchr17:69204352..69204050hg18UCSC Ensembl
Outerchr17:69202352..69206050hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365799
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691003
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