A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602555



Internal ID6989588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145132047..145132582hg38UCSC Ensembl
Innerchr4:145132050..145132580hg38UCSC Ensembl
Outerchr4:145132045..145132585hg38UCSC Ensembl
chr4:146053199..146053734hg19UCSC Ensembl
Innerchr4:146053202..146053732hg19UCSC Ensembl
Outerchr4:146053197..146053737hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11641072, essv11641058, essv11641066, essv11641063, essv11641069, essv11641059, essv11641062, essv11641076, essv11641073, essv11641067, essv11641065, essv11641060, essv11641061, essv11641071, essv11641070, essv11641074, essv11641075, essv11641064, essv11641068
SamplesNA20339, HG01537, HG02769, HG03095, HG03086, NA20320, NA19137, NA20340, NA19317, HG01247, HG03088, HG02817, HG03024, NA19452, NA19395, HG02568, NA19316, HG02629, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602555
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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