A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360212



Internal ID15207191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:14954913..14955034hg38UCSC Ensembl
Innerchr4:14954963..14954984hg38UCSC Ensembl
Outerchr4:14954863..14955084hg38UCSC Ensembl
chr4:14956537..14956658hg19UCSC Ensembl
Innerchr4:14956587..14956608hg19UCSC Ensembl
Outerchr4:14956487..14956708hg19UCSC Ensembl
chr4:14565635..14565756hg18UCSC Ensembl
Innerchr4:14565685..14565706hg18UCSC Ensembl
Outerchr4:14565585..14565806hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38122
hg19122
hg18122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741145
SamplesNA19240
Known GenesCPEB2-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360212
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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