A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413045



Internal ID14913318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98653123..98653132hg38UCSC Ensembl
Innerchr2:98653104..98653151hg38UCSC Ensembl
Outerchr2:98653095..98653160hg38UCSC Ensembl
chr2:99269586..99269595hg19UCSC Ensembl
Innerchr2:99269567..99269614hg19UCSC Ensembl
Outerchr2:99269558..99269623hg19UCSC Ensembl
chr2:98636018..98636027hg18UCSC Ensembl
Innerchr2:98636046..98635999hg18UCSC Ensembl
Outerchr2:98635990..98636055hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863978
SamplesNA12005
Known GenesMGAT4A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413045
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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