A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302541



Internal ID15149488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227414422..227414571hg38UCSC Ensembl
Innerchr1:227414496..227414496hg38UCSC Ensembl
Outerchr1:227414322..227414671hg38UCSC Ensembl
chr1:227602123..227602272hg19UCSC Ensembl
Innerchr1:227602197..227602197hg19UCSC Ensembl
Outerchr1:227602023..227602372hg19UCSC Ensembl
chr1:225668746..225668895hg18UCSC Ensembl
Innerchr1:225668820..225668820hg18UCSC Ensembl
Outerchr1:225668646..225668995hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38150
hg19150
hg18150
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv293e59
Supporting Variantsessv7731451, essv7731027
SamplesNA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302541
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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