A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360634



Internal ID14860896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188989139..188989145hg38UCSC Ensembl
Innerchr2:188989131..188989153hg38UCSC Ensembl
Outerchr2:188989125..188989159hg38UCSC Ensembl
chr2:189853865..189853871hg19UCSC Ensembl
Innerchr2:189853857..189853879hg19UCSC Ensembl
Outerchr2:189853851..189853885hg19UCSC Ensembl
chr2:189562110..189562116hg18UCSC Ensembl
Innerchr2:189562124..189562102hg18UCSC Ensembl
Outerchr2:189562096..189562130hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674600, essv8674596, essv8674601, essv8674599
SamplesNA12892, NA19238, NA12878, NA19240
Known GenesCOL3A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360634
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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