A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310286



Internal ID15157237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217316030..217316031hg38UCSC Ensembl
Innerchr2:217316013..217316048hg38UCSC Ensembl
Outerchr2:217316012..217316049hg38UCSC Ensembl
chr2:218180753..218180754hg19UCSC Ensembl
Innerchr2:218180736..218180771hg19UCSC Ensembl
Outerchr2:218180735..218180772hg19UCSC Ensembl
chr2:217888998..217888999hg18UCSC Ensembl
Innerchr2:217889016..217888981hg18UCSC Ensembl
Outerchr2:217888980..217889017hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840996, essv7840295, essv7842020, essv7841327, essv7842792
SamplesNA12891, NA19238, NA12878, NA12892, NA19240
Known GenesDIRC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310286
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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