A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590859



Internal ID6978187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55683612..55714730hg38UCSC Ensembl
chr2:55910747..55941865hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3831119
hg1931119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10512306, essv10512249, essv10512296, essv10512303, essv10512279, essv10512247, essv10512259, essv10512241, essv10512275, essv10512289, essv10512267, essv10512240, essv10512280, essv10512284, essv10512245, essv10512236, essv10512246, essv10512235, essv10512272, essv10512276, essv10512301, essv10512253, essv10512244, essv10512266, essv10512305, essv10512295, essv10512261, essv10512293, essv10512300, essv10512297, essv10512282, essv10512234, essv10512242, essv10512255, essv10512260, essv10512277, essv10512254, essv10512283, essv10512238, essv10512274, essv10512294, essv10512243, essv10512270, essv10512268, essv10512264, essv10512256, essv10512248, essv10512307, essv10512265, essv10512299, essv10512286, essv10512252, essv10512237, essv10512291, essv10512298, essv10512251, essv10512271, essv10512258, essv10512269, essv10512262, essv10512285, essv10512290, essv10512287, essv10512281, essv10512233, essv10512239, essv10512304, essv10512288, essv10512278, essv10512302, essv10512263, essv10512273, essv10512257, essv10512292, essv10512250, essv10512232
SamplesHG03096, HG02583, NA19204, HG03057, HG02337, HG02852, HG02798, HG03558, NA20321, HG02870, HG03100, HG03297, HG03577, HG02589, NA19098, HG03572, HG03436, HG02811, HG03168, NA19448, NA20317, HG03105, HG02054, HG03479, HG03224, NA19130, HG02562, HG03556, HG02315, HG02461, HG03045, NA19235, NA19172, HG02502, NA18864, NA19445, HG02715, HG02943, HG02977, HG02820, NA20535, HG03061, HG03088, NA18933, HG03547, NA19327, HG02144, NA18910, HG02497, HG03301, NA19461, HG03476, NA18853, NA19225, HG02635, HG02586, HG02568, NA19436, NA20296, HG02330, HG03028, HG01190, HG02721, HG03458, NA18865, HG01108, HG03557, HG02771, HG03049, NA19713, NA19213, NA19121, HG03445, HG02947, HG02855, HG02808
Known GenesPNPT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590859
Frequency
Sample Size2504
Observed Gain76
Observed Loss0
Observed Complex0
Frequencyn/a


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