A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599503



Internal ID6986549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6420004..6421774hg38UCSC Ensembl
Innerchr4:6420004..6421774hg38UCSC Ensembl
Outerchr4:6419927..6421876hg38UCSC Ensembl
chr4:6421731..6423501hg19UCSC Ensembl
Innerchr4:6421731..6423501hg19UCSC Ensembl
Outerchr4:6421654..6423603hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381771
hg191771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11327922, essv11327927, essv11327923, essv11327917, essv11327919, essv11327920, essv11327916, essv11327928, essv11327921, essv11327926, essv11327929, essv11327930, essv11327918, essv11327925, essv11327932, essv11327931, essv11327924, essv11327915
SamplesNA12273, HG01694, HG01069, HG02224, HG00739, HG00743, HG01501, HG00132, HG00263, NA20522, HG00254, HG00237, NA20510, NA20807, HG00274, HG01431, NA12154, HG01578
Known GenesPPP2R2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599503
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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