A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694201



Internal ID15080030
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 Flag0
Merged StatusS
Merged Variantsesv3406160
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694201
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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