A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620559



Internal ID6660740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69416055..69439564hg38UCSC Ensembl
chr9:72030971..72054480hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3823510
hg1923510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13511389, essv13511340, essv13511391, essv13511354, essv13511372, essv13511407, essv13511427, essv13511348, essv13511404, essv13511429, essv13511397, essv13511368, essv13511383, essv13511351, essv13511341, essv13511423, essv13511342, essv13511431, essv13511416, essv13511421, essv13511376, essv13511403, essv13511401, essv13511396, essv13511377, essv13511364, essv13511366, essv13511418, essv13511362, essv13511352, essv13511424, essv13511386, essv13511365, essv13511359, essv13511406, essv13511387, essv13511408, essv13511339, essv13511398, essv13511344, essv13511381, essv13511392, essv13511405, essv13511361, essv13511419, essv13511369, essv13511410, essv13511370, essv13511412, essv13511390, essv13511360, essv13511413, essv13511399, essv13511415, essv13511417, essv13511409, essv13511422, essv13511395, essv13511357, essv13511375, essv13511355, essv13511430, essv13511373, essv13511356, essv13511358, essv13511394, essv13511367, essv13511350, essv13511400, essv13511384, essv13511393, essv13511349, essv13511374, essv13511353, essv13511385, essv13511378, essv13511428, essv13511347, essv13511425, essv13511414, essv13511345, essv13511343, essv13511420, essv13511371, essv13511426, essv13511346, essv13511382, essv13511411, essv13511402, essv13511363, essv13511388, essv13511380, essv13511379
SamplesHG02574, NA19141, HG02610, HG03378, NA18508, HG02337, NA18917, NA18877, HG02891, HG02624, NA20346, HG03577, HG02888, NA18510, HG03478, NA19319, NA19201, HG02811, HG04206, NA19916, NA19138, HG02922, HG03209, HG02562, NA20340, HG03045, HG03195, HG02471, NA20412, NA19456, HG03394, HG03369, HG02442, HG01183, NA19908, NA19247, HG03054, HG00266, HG00183, HG00380, NA18956, HG03547, NA19327, NA19043, NA19982, HG02887, HG01989, HG02878, NA18499, HG03397, HG03078, NA18856, HG01241, HG03446, HG01890, NA19225, NA18523, HG03354, HG02896, HG02594, HG01956, HG01990, HG02722, HG02772, HG03064, NA19321, NA21144, HG02837, NA19380, HG00308, HG02982, HG03469, HG03433, HG02580, NA20797, HG03557, HG03419, HG02814, HG03108, HG03084, NA20348, NA19116, NA19213, HG02186, HG03538, HG01914, HG02855, HG02465, NA19463, NA18511, HG03118, HG03303, NA19346
Known GenesAPBA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620559
Frequency
Sample Size2504
Observed Gain93
Observed Loss0
Observed Complex0
Frequencyn/a


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