A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323674



Internal ID15170649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241454084..241454084hg38UCSC Ensembl
Innerchr1:241454083..241454085hg38UCSC Ensembl
Outerchr1:241454034..241454134hg38UCSC Ensembl
chr1:241617384..241617384hg19UCSC Ensembl
Innerchr1:241617383..241617385hg19UCSC Ensembl
Outerchr1:241617334..241617434hg19UCSC Ensembl
chr1:239684007..239684007hg18UCSC Ensembl
Innerchr1:239684008..239684006hg18UCSC Ensembl
Outerchr1:239683957..239684057hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38804
hg19804
hg18804
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653212, essv8653211, essv8653210
SamplesNA12891, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323674
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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