A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381537



Internal ID15228509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124630638..124630674hg38UCSC Ensembl
Innerchr4:124630630..124630679hg38UCSC Ensembl
Outerchr4:124630594..124630718hg38UCSC Ensembl
chr4:125551793..125551829hg19UCSC Ensembl
Innerchr4:125551785..125551834hg19UCSC Ensembl
Outerchr4:125551749..125551873hg19UCSC Ensembl
chr4:125771243..125771279hg18UCSC Ensembl
Innerchr4:125771284..125771235hg18UCSC Ensembl
Outerchr4:125771199..125771323hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675372, essv8675374, essv8675373
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381537
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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