A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443367



Internal ID14943634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76072661..76072673hg38UCSC Ensembl
Innerchr4:76072652..76072682hg38UCSC Ensembl
Outerchr4:76072640..76072691hg38UCSC Ensembl
chr4:76993814..76993826hg19UCSC Ensembl
Innerchr4:76993805..76993835hg19UCSC Ensembl
Outerchr4:76993793..76993844hg19UCSC Ensembl
chr4:77212838..77212850hg18UCSC Ensembl
Innerchr4:77212859..77212829hg18UCSC Ensembl
Outerchr4:77212817..77212868hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675654, essv8675656, essv8675655, essv8675657
SamplesNA19239, NA12891, NA12878, NA19240
Known GenesART3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443367
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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