A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418305



Internal ID15265263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212376787..212378085hg38UCSC Ensembl
Innerchr1:212377085..212377787hg38UCSC Ensembl
Outerchr1:212375787..212379085hg38UCSC Ensembl
chr1:212550129..212551427hg19UCSC Ensembl
Innerchr1:212550427..212551129hg19UCSC Ensembl
Outerchr1:212549129..212552427hg19UCSC Ensembl
chr1:210616752..210618050hg18UCSC Ensembl
Innerchr1:210617752..210617050hg18UCSC Ensembl
Outerchr1:210615752..210619050hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692118
SamplesNA19239
Known GenesTMEM206
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418305
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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