A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359336



Internal ID15206315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180988193..180989091hg38UCSC Ensembl
Innerchr1:180988192..180989092hg38UCSC Ensembl
Outerchr1:180987193..180990091hg38UCSC Ensembl
chr1:180957329..180958227hg19UCSC Ensembl
Innerchr1:180957328..180958228hg19UCSC Ensembl
Outerchr1:180956329..180959227hg19UCSC Ensembl
chr1:179223952..179224850hg18UCSC Ensembl
Innerchr1:179224851..179223951hg18UCSC Ensembl
Outerchr1:179222952..179225850hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692078
SamplesNA19239
Known GenesSTX6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359336
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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