A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360882



Internal ID15207860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201259979..201259994hg38UCSC Ensembl
Innerchr2:201259955..201260018hg38UCSC Ensembl
Outerchr2:201259940..201260033hg38UCSC Ensembl
chr2:202124702..202124717hg19UCSC Ensembl
Innerchr2:202124678..202124741hg19UCSC Ensembl
Outerchr2:202124663..202124756hg19UCSC Ensembl
chr2:201832947..201832962hg18UCSC Ensembl
Innerchr2:201832986..201832923hg18UCSC Ensembl
Outerchr2:201832908..201833001hg18UCSC Ensembl
Cytoband2q33.1
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 Variantsessv7864077, essv7864078
SamplesNA18486, NA18520
Known GenesCASP8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360882
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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