A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303016



Internal ID15149964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:35772689..35772786hg38UCSC Ensembl
Innerchr4:35772737..35772737hg38UCSC Ensembl
Outerchr4:35772589..35772886hg38UCSC Ensembl
chr4:35774311..35774408hg19UCSC Ensembl
Innerchr4:35774359..35774359hg19UCSC Ensembl
Outerchr4:35774211..35774508hg19UCSC Ensembl
chr4:35450706..35450803hg18UCSC Ensembl
Innerchr4:35450754..35450754hg18UCSC Ensembl
Outerchr4:35450606..35450903hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3898
hg1998
hg1898
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2959e59
Supporting Variantsessv7733979, essv7737859, essv7735765, essv7738566, essv7733409, essv7733022, essv7733212, essv7735959, essv7737331
SamplesNA12004, NA18504, NA19138, NA19238, NA18858, NA18909, NA19147, NA19240, NA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303016
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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