A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308327



Internal ID15155275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60399352..60399353hg38UCSC Ensembl
Innerchr5:60399330..60399375hg38UCSC Ensembl
Outerchr5:60399329..60399376hg38UCSC Ensembl
chr5:59695179..59695180hg19UCSC Ensembl
Innerchr5:59695157..59695202hg19UCSC Ensembl
Outerchr5:59695156..59695203hg19UCSC Ensembl
chr5:59730936..59730937hg18UCSC Ensembl
Innerchr5:59730959..59730914hg18UCSC Ensembl
Outerchr5:59730913..59730960hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38180
hg19180
hg18180
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839222, essv7839525
SamplesNA12878, NA19240
Known GenesPDE4D
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308327
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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