A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692124



Internal ID13673905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:260138..268536hg38UCSC Ensembl
Innerchr1:261138..267536hg38UCSC Ensembl
Outerchr1:259138..269536hg38UCSC Ensembl
chr1:229889..238287hg19UCSC Ensembl
Innerchr1:230889..237287hg19UCSC Ensembl
Outerchr1:228889..239287hg19UCSC Ensembl
chr1:219752..228150hg18UCSC Ensembl
Innerchr1:220752..227150hg18UCSC Ensembl
Outerchr1:218752..229150hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg388399
hg198399
hg188399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3432331
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692124
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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