A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696714



Internal ID13658438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40315038..40317436hg38UCSC Ensembl
Innerchr9:40316038..40316436hg38UCSC Ensembl
Outerchr9:40314038..40318436hg38UCSC Ensembl
chr9:42460056..42462454hg19UCSC Ensembl
Innerchr9:42461056..42461454hg19UCSC Ensembl
Outerchr9:42459056..42463454hg19UCSC Ensembl
chr9:42450052..42452450hg18UCSC Ensembl
Innerchr9:42451052..42451450hg18UCSC Ensembl
Outerchr9:42449052..42453450hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3435976
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696714
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