A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694469



Internal ID14735904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5856124..5857722hg38UCSC Ensembl
Innerchr4:5856722..5857124hg38UCSC Ensembl
Outerchr4:5855124..5858722hg38UCSC Ensembl
chr4:5857851..5859449hg19UCSC Ensembl
Innerchr4:5858449..5858851hg19UCSC Ensembl
Outerchr4:5856851..5860449hg19UCSC Ensembl
chr4:5908752..5910350hg18UCSC Ensembl
Innerchr4:5909752..5909350hg18UCSC Ensembl
Outerchr4:5907752..5911350hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350523
Supporting Variants
SamplesNA19240
Known GenesCRMP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694469
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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