A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675374



Internal ID15082200
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 StatusS
Merged Variantsesv3381537
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675374
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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