A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341551



Internal ID14841820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152391753..152391763hg38UCSC Ensembl
Innerchr2:152391745..152391771hg38UCSC Ensembl
Outerchr2:152391732..152391781hg38UCSC Ensembl
chr2:153248267..153248277hg19UCSC Ensembl
Innerchr2:153248259..153248285hg19UCSC Ensembl
Outerchr2:153248246..153248295hg19UCSC Ensembl
chr2:152956513..152956523hg18UCSC Ensembl
Innerchr2:152956531..152956505hg18UCSC Ensembl
Outerchr2:152956492..152956541hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674500, essv8674499, essv8674496, essv8674501, essv8674497
SamplesNA12891, NA19239, NA12878, NA12892, NA19240
Known GenesFMNL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341551
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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