A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597847



Internal ID6984985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133603582..133605621hg38UCSC Ensembl
Innerchr3:133603622..133605582hg38UCSC Ensembl
Outerchr3:133603543..133605661hg38UCSC Ensembl
chr3:133322426..133324465hg19UCSC Ensembl
Innerchr3:133322466..133324426hg19UCSC Ensembl
Outerchr3:133322387..133324505hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382040
hg192040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11155304, essv11155313, essv11155302, essv11155308, essv11155323, essv11155292, essv11155303, essv11155291, essv11155316, essv11155307, essv11155318, essv11155311, essv11155301, essv11155322, essv11155290, essv11155293, essv11155324, essv11155306, essv11155317, essv11155315, essv11155319, essv11155309, essv11155305, essv11155294, essv11155295, essv11155296, essv11155298, essv11155312, essv11155314, essv11155325, essv11155321, essv11155310, essv11155328, essv11155326, essv11155299, essv11155327, essv11155300, essv11155320, essv11155297
SamplesHG00608, HG00102, NA18508, NA12814, HG01802, HG01051, HG02153, HG02541, HG02756, NA19649, HG00369, HG01668, NA19036, HG00178, NA18954, HG03048, HG00313, NA18525, NA18939, HG01768, HG03123, HG03634, HG02399, HG00376, HG00128, HG02813, NA20821, HG00407, HG03437, HG01685, NA20778, NA20504, NA19467, HG00116, HG00329, NA12749, HG00342, HG02768, HG00274
Known GenesTOPBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597847
Frequency
Sample Size2504
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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