A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692128



Internal ID13736306
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 StatusS
Merged Variantsesv3337205
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692128
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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