A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305718



Internal ID14805980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201777268..201777269hg38UCSC Ensembl
Innerchr2:201777238..201777299hg38UCSC Ensembl
Outerchr2:201777237..201777300hg38UCSC Ensembl
chr2:202641991..202641992hg19UCSC Ensembl
Innerchr2:202641961..202642022hg19UCSC Ensembl
Outerchr2:202641960..202642023hg19UCSC Ensembl
chr2:202350236..202350237hg18UCSC Ensembl
Innerchr2:202350267..202350206hg18UCSC Ensembl
Outerchr2:202350205..202350268hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38204
hg19204
hg18204
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7750159, essv7747791, essv7753570, essv7759273, essv7756228, essv7749584, essv7750597, essv7740902
SamplesNA19137, NA18870, NA19093, NA19257, NA18508, NA19239, NA19099, NA19225
Known GenesALS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305718
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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