A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691103



Internal ID14681333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11803653..11805451hg38UCSC Ensembl
Innerchr18:11804451..11804653hg38UCSC Ensembl
Outerchr18:11802653..11806451hg38UCSC Ensembl
chr18:11803652..11805450hg19UCSC Ensembl
Innerchr18:11804450..11804652hg19UCSC Ensembl
Outerchr18:11802652..11806450hg19UCSC Ensembl
chr18:11793652..11795450hg18UCSC Ensembl
Innerchr18:11794652..11794450hg18UCSC Ensembl
Outerchr18:11792652..11796450hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3403150
Supporting Variants
SamplesNA19238
Known GenesGNAL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691103
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