A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388157



Internal ID14888440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101120569..101120588hg38UCSC Ensembl
Innerchr4:101120565..101120592hg38UCSC Ensembl
Outerchr4:101120546..101120611hg38UCSC Ensembl
chr4:102041726..102041745hg19UCSC Ensembl
Innerchr4:102041722..102041749hg19UCSC Ensembl
Outerchr4:102041703..102041768hg19UCSC Ensembl
chr4:102260749..102260768hg18UCSC Ensembl
Innerchr4:102260772..102260745hg18UCSC Ensembl
Outerchr4:102260726..102260791hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9616946, essv9616968, essv9616957
SamplesNA11881, NA07347, NA12873
Known GenesPPP3CA
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388157
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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