A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337205



Internal ID15184193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:261338..265936hg38UCSC Ensembl
Innerchr1:262338..264936hg38UCSC Ensembl
Outerchr1:260338..266936hg38UCSC Ensembl
chr1:231089..235687hg19UCSC Ensembl
Innerchr1:232089..234687hg19UCSC Ensembl
Outerchr1:230089..236687hg19UCSC Ensembl
chr1:220952..225550hg18UCSC Ensembl
Innerchr1:221952..224550hg18UCSC Ensembl
Outerchr1:219952..226550hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg384599
hg194599
hg184599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692128
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337205
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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