A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694232



Internal ID15042555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140286748..140290246hg38UCSC Ensembl
Innerchr4:140287748..140289246hg38UCSC Ensembl
Outerchr4:140285748..140291246hg38UCSC Ensembl
chr4:141207902..141211400hg19UCSC Ensembl
Innerchr4:141208902..141210400hg19UCSC Ensembl
Outerchr4:141206902..141212400hg19UCSC Ensembl
chr4:141427352..141430850hg18UCSC Ensembl
Innerchr4:141428352..141429850hg18UCSC Ensembl
Outerchr4:141426352..141431850hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3352205
Supporting Variants
SamplesNA19239
Known GenesLOC100129858, SCOC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694232
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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