A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3322678



Internal ID15169652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111465194..111465216hg38UCSC Ensembl
Innerchr1:111465200..111465208hg38UCSC Ensembl
Outerchr1:111465178..111465232hg38UCSC Ensembl
chr1:112007816..112007838hg19UCSC Ensembl
Innerchr1:112007822..112007830hg19UCSC Ensembl
Outerchr1:112007800..112007854hg19UCSC Ensembl
chr1:111809339..111809361hg18UCSC Ensembl
Innerchr1:111809353..111809345hg18UCSC Ensembl
Outerchr1:111809323..111809377hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38632
hg19632
hg18632
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8901011, essv8901010, essv8901008, essv8901009
SamplesNA18870, NA18916, NA18505, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3322678
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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