A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602528



Internal ID6989562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144000788..144096746hg38UCSC Ensembl
Innerchr4:144001288..144096246hg38UCSC Ensembl
Outerchr4:143999788..144097746hg38UCSC Ensembl
chr4:144921941..145017899hg19UCSC Ensembl
Innerchr4:144922441..145017399hg19UCSC Ensembl
Outerchr4:144920941..145018899hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3895959
hg1995959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11638032, essv11638038, essv11638017, essv11638022, essv11638031, essv11638028, essv11638046, essv11638016, essv11638043, essv11638019, essv11638026, essv11638047, essv11638045, essv11638041, essv11638036, essv11638042, essv11638039, essv11638024, essv11638027, essv11638030, essv11638044, essv11638018, essv11638040, essv11638034, essv11638023, essv11638021, essv11638025, essv11638029, essv11638033, essv11638037, essv11638020, essv11638035
SamplesNA18924, HG03378, HG03558, HG02536, NA19190, HG03385, NA18489, NA20291, HG03209, HG02946, NA20342, HG03055, HG02819, HG04039, NA19175, NA19236, NA19788, NA18910, HG01948, HG03085, NA20867, HG03476, NA18856, HG01241, HG03024, NA18858, NA19144, NA19818, HG03112, HG02970, HG03410, HG03077
Known GenesGYPB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602528
Frequency
Sample Size2504
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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