A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413309



Internal ID15260268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228769280..228769289hg38UCSC Ensembl
Innerchr1:228769261..228769308hg38UCSC Ensembl
Outerchr1:228769252..228769317hg38UCSC Ensembl
chr1:228905027..228905036hg19UCSC Ensembl
Innerchr1:228905008..228905055hg19UCSC Ensembl
Outerchr1:228904999..228905064hg19UCSC Ensembl
chr1:226971650..226971659hg18UCSC Ensembl
Innerchr1:226971678..226971631hg18UCSC Ensembl
Outerchr1:226971622..226971687hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863826
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413309
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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