A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395208



Internal ID14895486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44468161..44468199hg38UCSC Ensembl
Innerchr1:44468158..44468200hg38UCSC Ensembl
Outerchr1:44468122..44468238hg38UCSC Ensembl
chr1:44933833..44933871hg19UCSC Ensembl
Innerchr1:44933830..44933872hg19UCSC Ensembl
Outerchr1:44933794..44933910hg19UCSC Ensembl
chr1:44706420..44706458hg18UCSC Ensembl
Innerchr1:44706459..44706417hg18UCSC Ensembl
Outerchr1:44706381..44706497hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674027, essv8674026
SamplesNA19239, NA12892
Known GenesRNF220
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395208
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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