A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373652



Internal ID15220627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118381026..118381056hg38UCSC Ensembl
Innerchr2:118381040..118381040hg38UCSC Ensembl
Outerchr2:118381012..118381070hg38UCSC Ensembl
chr2:119138602..119138632hg19UCSC Ensembl
Innerchr2:119138616..119138616hg19UCSC Ensembl
Outerchr2:119138588..119138646hg19UCSC Ensembl
chr2:118855072..118855102hg18UCSC Ensembl
Innerchr2:118855086..118855086hg18UCSC Ensembl
Outerchr2:118855058..118855116hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg383273
hg193273
hg183273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8907866, essv8907868, essv8907867
SamplesNA18520, NA18856, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373652
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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