A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692151



Internal ID15110305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229148382..229149880hg38UCSC Ensembl
Innerchr1:229148880..229149382hg38UCSC Ensembl
Outerchr1:229147382..229150880hg38UCSC Ensembl
chr1:229284129..229285627hg19UCSC Ensembl
Innerchr1:229284627..229285129hg19UCSC Ensembl
Outerchr1:229283129..229286627hg19UCSC Ensembl
chr1:227350752..227352250hg18UCSC Ensembl
Innerchr1:227351752..227351250hg18UCSC Ensembl
Outerchr1:227349752..227353250hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417911
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692151
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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