A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694381



Internal ID15043869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2897827..2901325hg38UCSC Ensembl
Innerchr4:2898827..2900325hg38UCSC Ensembl
Outerchr4:2896827..2902325hg38UCSC Ensembl
chr4:2899554..2903052hg19UCSC Ensembl
Innerchr4:2900554..2902052hg19UCSC Ensembl
Outerchr4:2898554..2904052hg19UCSC Ensembl
chr4:2869352..2872850hg18UCSC Ensembl
Innerchr4:2870352..2871850hg18UCSC Ensembl
Outerchr4:2868352..2873850hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3419163
Supporting Variants
SamplesNA19239
Known GenesADD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694381
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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