A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589814



Internal ID6977144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11254960..11260542hg38UCSC Ensembl
Innerchr2:11255460..11260042hg38UCSC Ensembl
Outerchr2:11253960..11261542hg38UCSC Ensembl
chr2:11395086..11400668hg19UCSC Ensembl
Innerchr2:11395586..11400168hg19UCSC Ensembl
Outerchr2:11394086..11401668hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385583
hg195583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10408380, essv10408418, essv10408463, essv10408436, essv10408379, essv10408452, essv10408394, essv10408417, essv10408461, essv10408423, essv10408400, essv10408428, essv10408420, essv10408385, essv10408454, essv10408386, essv10408391, essv10408451, essv10408402, essv10408390, essv10408432, essv10408453, essv10408439, essv10408387, essv10408407, essv10408413, essv10408455, essv10408414, essv10408434, essv10408401, essv10408427, essv10408437, essv10408406, essv10408448, essv10408412, essv10408410, essv10408411, essv10408392, essv10408443, essv10408466, essv10408441, essv10408440, essv10408449, essv10408433, essv10408425, essv10408447, essv10408435, essv10408457, essv10408384, essv10408442, essv10408445, essv10408465, essv10408419, essv10408409, essv10408458, essv10408405, essv10408404, essv10408415, essv10408431, essv10408430, essv10408395, essv10408459, essv10408462, essv10408403, essv10408416, essv10408446, essv10408389, essv10408396, essv10408426, essv10408381, essv10408450, essv10408424, essv10408382, essv10408398, essv10408397, essv10408388, essv10408378, essv10408429, essv10408444, essv10408438, essv10408421, essv10408393, essv10408399, essv10408460, essv10408383, essv10408422, essv10408464, essv10408408, essv10408456
SamplesHG02614, HG02339, HG02890, HG03247, HG03057, HG03449, HG02798, NA20321, HG02870, HG02804, HG02769, NA19379, HG02811, NA19315, HG03091, NA18923, HG02595, HG02756, NA19038, HG02281, NA19404, NA19041, HG02573, HG01495, NA19024, NA20412, NA20342, HG03058, HG02623, NA19445, HG03055, NA19921, HG02879, HG02479, HG01435, HG03547, HG03291, HG03575, HG03085, HG01311, HG02429, NA19449, HG03136, HG03476, HG02445, HG03397, HG03078, NA19031, HG02309, HG03571, HG03391, NA19257, HG01286, HG02635, HG01988, HG02675, NA19401, HG02330, HG03539, HG02546, HG02721, HG01551, HG03469, HG03127, HG02464, NA19360, HG03557, NA19475, NA19376, HG02974, HG01912, HG03066, HG03279, HG02013, HG03077, HG03470, HG03401, HG02051, NA19121, HG03445, HG02763, NA18505, NA19129, HG02465, NA20763, HG02805, HG01509, NA19346, HG02760
Known GenesROCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589814
Frequency
Sample Size2504
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


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