A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593247



Internal ID6633527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166299120..166302260hg38UCSC Ensembl
Innerchr2:166299126..166302255hg38UCSC Ensembl
Outerchr2:166299115..166302266hg38UCSC Ensembl
chr2:167155630..167158770hg19UCSC Ensembl
Innerchr2:167155636..167158765hg19UCSC Ensembl
Outerchr2:167155625..167158776hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383141
hg193141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10747435, essv10747497, essv10747458, essv10747524, essv10747549, essv10747445, essv10747448, essv10747447, essv10747487, essv10747465, essv10747520, essv10747528, essv10747423, essv10747565, essv10747419, essv10747439, essv10747402, essv10747539, essv10747462, essv10747486, essv10747438, essv10747477, essv10747494, essv10747446, essv10747488, essv10747573, essv10747471, essv10747507, essv10747476, essv10747559, essv10747416, essv10747475, essv10747506, essv10747489, essv10747532, essv10747421, essv10747511, essv10747441, essv10747495, essv10747449, essv10747521, essv10747531, essv10747470, essv10747550, essv10747434, essv10747451, essv10747567, essv10747457, essv10747540, essv10747547, essv10747418, essv10747403, essv10747437, essv10747406, essv10747415, essv10747533, essv10747555, essv10747440, essv10747509, essv10747456, essv10747526, essv10747496, essv10747538, essv10747467, essv10747564, essv10747433, essv10747568, essv10747513, essv10747422, essv10747469, essv10747543, essv10747569, essv10747517, essv10747518, essv10747463, essv10747562, essv10747404, essv10747512, essv10747483, essv10747519, essv10747491, essv10747503, essv10747453, essv10747424, essv10747461, essv10747544, essv10747557, essv10747558, essv10747428, essv10747427, essv10747541, essv10747414, essv10747436, essv10747548, essv10747452, essv10747482, essv10747570, essv10747430, essv10747566, essv10747459, essv10747502, essv10747460, essv10747534, essv10747551, essv10747575, essv10747498, essv10747561, essv10747409, essv10747501, essv10747484, essv10747553, essv10747536, essv10747500, essv10747408, essv10747425, essv10747466, essv10747571, essv10747413, essv10747426, essv10747429, essv10747527, essv10747545, essv10747535, essv10747454, essv10747504, essv10747420, essv10747479, essv10747464, essv10747529, essv10747492, essv10747542, essv10747473, essv10747472, essv10747515, essv10747572, essv10747417, essv10747474, essv10747411, essv10747455, essv10747405, essv10747510, essv10747563, essv10747523, essv10747431, essv10747514, essv10747537, essv10747480, essv10747481, essv10747554, essv10747478, essv10747530, essv10747516, essv10747508, essv10747556, essv10747450, essv10747468, essv10747444, essv10747522, essv10747443, essv10747560, essv10747432, essv10747552, essv10747410, essv10747505, essv10747525, essv10747546, essv10747499, essv10747490, essv10747574, essv10747442, essv10747493, essv10747407, essv10747412, essv10747485
SamplesHG02879, HG03163, HG02496, NA19248, NA19913, HG03160, HG03121, NA19445, HG03354, HG01440, HG02108, HG02810, HG03567, NA19214, NA19712, HG01241, HG02675, NA18520, NA19026, NA19904, HG03064, HG03351, NA19222, HG01988, HG01083, HG02284, HG02983, HG03055, NA19023, HG02318, NA19223, NA19435, NA20299, HG02450, NA20296, HG03189, HG02943, NA19317, NA19923, NA18865, NA19920, HG02508, NA19019, HG01958, NA19320, HG02760, HG03548, HG03538, NA19108, HG03485, NA19701, NA19236, HG03199, HG03268, HG03109, NA19472, HG02805, HG01551, NA18873, NA18868, NA19143, HG03376, HG02895, HG01311, HG01107, NA19463, NA19982, HG03470, NA18508, HG02634, NA20356, HG01392, HG03054, HG03300, NA19917, HG03202, HG02554, NA19900, NA19107, HG02968, NA19096, NA19397, HG03241, HG02143, NA19256, NA20282, HG01253, NA18916, HG03166, NA19700, NA19316, NA19324, HG02888, HG02814, HG03085, NA19395, HG02442, HG02325, HG03190, NA19172, HG03040, NA20348, NA19206, NA19384, NA18498, NA19027, NA19102, HG03547, HG02594, NA19119, NA19713, NA19731, HG02623, NA19098, HG01170, HG02429, HG02611, HG03168, HG02971, NA18878, HG02852, HG02545, HG02571, NA19131, HG02052, HG02479, NA19711, HG02586, NA19462, HG01880, HG02582, HG03028, NA19235, NA19921, HG03303, NA18907, NA19035, HG02645, NA18915, NA20332, HG03246, HG03367, HG03556, HG01303, NA20318, HG03078, HG02144, NA19225, HG02891, HG03259, NA19399, HG02679, HG03258, HG03270, NA19118, HG02721, NA19130, HG02485, HG01985, HG03271, HG03372, HG03388, HG02555, HG03515, HG03517, HG02505, NA19454, HG02332, HG02860, HG02855, HG02820, HG02769, HG02282, HG03082
Known GenesSCN9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593247
Frequency
Sample Size2504
Observed Gain0
Observed Loss174
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer