A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308325



Internal ID15155273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55586967..55586968hg38UCSC Ensembl
Innerchr4:55586938..55586997hg38UCSC Ensembl
Outerchr4:55586937..55586998hg38UCSC Ensembl
chr4:56453134..56453135hg19UCSC Ensembl
Innerchr4:56453105..56453164hg19UCSC Ensembl
Outerchr4:56453104..56453165hg19UCSC Ensembl
chr4:56147891..56147892hg18UCSC Ensembl
Innerchr4:56147921..56147862hg18UCSC Ensembl
Outerchr4:56147861..56147922hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837899, essv7838387
SamplesNA12891, NA12892
Known GenesPDCL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308325
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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