A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620370



Internal ID6660553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:35170034..35175166hg38UCSC Ensembl
chr9:35170031..35175163hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg385133
hg195133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13459332, essv13459289, essv13459306, essv13459277, essv13459255, essv13459272, essv13459308, essv13459320, essv13459316, essv13459323, essv13459270, essv13459269, essv13459301, essv13459337, essv13459296, essv13459314, essv13459330, essv13459257, essv13459310, essv13459302, essv13459286, essv13459304, essv13459334, essv13459274, essv13459261, essv13459282, essv13459300, essv13459317, essv13459294, essv13459293, essv13459318, essv13459259, essv13459256, essv13459313, essv13459264, essv13459250, essv13459336, essv13459275, essv13459290, essv13459329, essv13459315, essv13459252, essv13459278, essv13459322, essv13459285, essv13459311, essv13459305, essv13459262, essv13459254, essv13459273, essv13459292, essv13459267, essv13459326, essv13459324, essv13459287, essv13459260, essv13459319, essv13459333, essv13459325, essv13459327, essv13459281, essv13459321, essv13459268, essv13459295, essv13459265, essv13459251, essv13459283, essv13459280, essv13459328, essv13459312, essv13459276, essv13459309, essv13459271, essv13459331, essv13459263, essv13459258, essv13459266, essv13459303, essv13459298, essv13459279, essv13459248, essv13459335, essv13459284, essv13459249, essv13459297, essv13459299, essv13459253, essv13459307, essv13459291, essv13459288
SamplesHG01986, HG02890, NA19222, HG02944, HG02628, HG02702, HG03175, NA18881, HG03241, HG02798, HG03558, HG03115, HG03130, HG03521, NA19819, HG03190, NA18878, HG02624, HG03518, HG03515, NA19107, HG03199, HG03464, HG02621, HG03099, HG03499, HG02562, HG03520, HG02703, HG03189, NA19917, HG02420, NA19159, NA19036, HG02545, NA20342, HG03583, HG02715, HG03369, HG02449, HG01879, NA19236, HG02450, NA18910, HG01092, HG03301, NA20299, HG03136, HG03202, HG03078, NA18856, NA18853, NA19099, HG02585, HG02256, NA18523, HG03354, NA19160, NA19095, HG02594, HG01956, HG02675, HG02722, HG02772, HG01148, NA19375, HG03028, NA19440, NA19834, NA19331, HG02837, HG02611, NA19334, NA19428, NA19143, NA19117, NA20348, NA19438, HG03313, NA19468, NA19093, NA18876, HG02947, NA18505, HG03376, HG02465, HG03198, HG02343, HG03439, HG03166
Known GenesUNC13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620370
Frequency
Sample Size2504
Observed Gain90
Observed Loss0
Observed Complex0
Frequencyn/a


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