A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692424



Internal ID14720928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9257906..9260904hg38UCSC Ensembl
Innerchr1:9258906..9259904hg38UCSC Ensembl
Outerchr1:9256906..9261904hg38UCSC Ensembl
chr1:9317965..9320963hg19UCSC Ensembl
Innerchr1:9318965..9319963hg19UCSC Ensembl
Outerchr1:9316965..9321963hg19UCSC Ensembl
chr1:9240552..9243550hg18UCSC Ensembl
Innerchr1:9241552..9242550hg18UCSC Ensembl
Outerchr1:9239552..9244550hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3394437
Supporting Variants
SamplesNA19239
Known GenesH6PD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692424
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