A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406160



Internal ID15253122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1147364..1152562hg38UCSC Ensembl
Innerchr4:1148364..1151562hg38UCSC Ensembl
Outerchr4:1146364..1153562hg38UCSC Ensembl
chr4:1141152..1146350hg19UCSC Ensembl
Innerchr4:1142152..1145350hg19UCSC Ensembl
Outerchr4:1140152..1147350hg19UCSC Ensembl
chr4:1131152..1136350hg18UCSC Ensembl
Innerchr4:1132152..1135350hg18UCSC Ensembl
Outerchr4:1130152..1137350hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg385199
hg195199
hg185199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694201
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406160
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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