A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446798



Internal ID14947062
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 StatusM
Merged Variantsdgv40e59
Supporting Variantsessv8692425
SamplesNA19240
Known GenesH6PD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446798
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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