A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333123



Internal ID14833396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:24866791..24866807hg38UCSC Ensembl
Innerchr4:24866766..24866832hg38UCSC Ensembl
Outerchr4:24866750..24866848hg38UCSC Ensembl
chr4:24868413..24868429hg19UCSC Ensembl
Innerchr4:24868388..24868454hg19UCSC Ensembl
Outerchr4:24868372..24868470hg19UCSC Ensembl
chr4:24477511..24477527hg18UCSC Ensembl
Innerchr4:24477552..24477486hg18UCSC Ensembl
Outerchr4:24477470..24477568hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864261
SamplesNA12005
Known GenesCCDC149
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333123
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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