A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331205



Internal ID15178194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2696927..2699125hg38UCSC Ensembl
Innerchr4:2697927..2698125hg38UCSC Ensembl
Outerchr4:2695927..2700125hg38UCSC Ensembl
chr4:2698654..2700852hg19UCSC Ensembl
Innerchr4:2699654..2699852hg19UCSC Ensembl
Outerchr4:2697654..2701852hg19UCSC Ensembl
chr4:2668452..2670650hg18UCSC Ensembl
Innerchr4:2669452..2669650hg18UCSC Ensembl
Outerchr4:2667452..2671650hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694377
SamplesNA19239
Known GenesFAM193A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331205
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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