A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644420



Internal ID7031175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42864903..42907051hg38UCSC Ensembl
chr19:43369055..43411203hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3842149
hg1942149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16057349, essv16057382, essv16057368, essv16057371, essv16057345, essv16057380, essv16057359, essv16057386, essv16057373, essv16057353, essv16057370, essv16057347, essv16057385, essv16057363, essv16057384, essv16057344, essv16057395, essv16057366, essv16057379, essv16057352, essv16057365, essv16057387, essv16057342, essv16057381, essv16057358, essv16057376, essv16057343, essv16057362, essv16057340, essv16057338, essv16057392, essv16057360, essv16057375, essv16057391, essv16057374, essv16057364, essv16057394, essv16057351, essv16057354, essv16057350, essv16057390, essv16057377, essv16057388, essv16057389, essv16057355, essv16057396, essv16057341, essv16057357, essv16057348, essv16057356, essv16057397, essv16057393, essv16057383, essv16057346, essv16057367, essv16057372, essv16057337, essv16057378, essv16057339, essv16057361, essv16057369
SamplesNA19795, HG02323, NA18606, HG03297, HG00663, HG00622, NA19792, HG02811, NA19678, NA19119, HG03342, HG02854, HG01372, HG03594, HG02505, HG03986, NA19731, HG03195, HG03073, NA20342, HG03585, HG02882, HG03048, NA18605, HG03054, HG03088, HG03786, HG01989, HG00619, HG03124, HG01948, NA18537, NA19654, HG03730, NA19761, HG03755, HG02594, NA19625, HG01596, HG01990, HG01858, HG04188, HG03117, NA19144, NA18643, HG01798, NA20281, NA19783, HG03419, HG00620, HG01846, HG01783, HG04098, NA20826, NA19711, HG03470, HG02051, HG02284, HG03439, NA11832, HG03271
Known GenesPSG1, PSG6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644420
Frequency
Sample Size2504
Observed Gain61
Observed Loss0
Observed Complex0
Frequencyn/a


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