A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641601



Internal ID6681686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3560303..3562105hg38UCSC Ensembl
Innerchr18:3560303..3562105hg38UCSC Ensembl
Outerchr18:3560139..3562262hg38UCSC Ensembl
chr18:3560301..3562103hg19UCSC Ensembl
Innerchr18:3560301..3562103hg19UCSC Ensembl
Outerchr18:3560137..3562260hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381803
hg191803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15779426, essv15779479, essv15779483, essv15779505, essv15779441, essv15779460, essv15779382, essv15779396, essv15779448, essv15779389, essv15779430, essv15779434, essv15779381, essv15779384, essv15779365, essv15779443, essv15779511, essv15779422, essv15779487, essv15779485, essv15779501, essv15779392, essv15779416, essv15779412, essv15779394, essv15779492, essv15779417, essv15779438, essv15779418, essv15779359, essv15779364, essv15779409, essv15779480, essv15779374, essv15779475, essv15779439, essv15779472, essv15779459, essv15779449, essv15779503, essv15779463, essv15779398, essv15779437, essv15779453, essv15779433, essv15779369, essv15779502, essv15779452, essv15779471, essv15779399, essv15779456, essv15779469, essv15779362, essv15779368, essv15779375, essv15779405, essv15779380, essv15779436, essv15779489, essv15779442, essv15779400, essv15779514, essv15779510, essv15779457, essv15779361, essv15779432, essv15779415, essv15779466, essv15779419, essv15779402, essv15779450, essv15779482, essv15779378, essv15779462, essv15779404, essv15779513, essv15779481, essv15779401, essv15779421, essv15779461, essv15779494, essv15779484, essv15779395, essv15779411, essv15779428, essv15779387, essv15779403, essv15779429, essv15779446, essv15779496, essv15779371, essv15779490, essv15779370, essv15779425, essv15779366, essv15779440, essv15779454, essv15779499, essv15779407, essv15779390, essv15779393, essv15779372, essv15779504, essv15779424, essv15779444, essv15779447, essv15779500, essv15779467, essv15779358, essv15779363, essv15779476, essv15779509, essv15779495, essv15779373, essv15779357, essv15779468, essv15779478, essv15779491, essv15779486, essv15779413, essv15779420, essv15779451, essv15779397, essv15779508, essv15779507, essv15779427, essv15779465, essv15779477, essv15779385, essv15779431, essv15779388, essv15779488, essv15779445, essv15779408, essv15779406, essv15779464, essv15779506, essv15779493, essv15779458, essv15779379, essv15779367, essv15779386, essv15779512, essv15779377, essv15779473, essv15779470, essv15779497, essv15779474, essv15779423, essv15779414, essv15779410, essv15779391, essv15779360, essv15779376, essv15779435, essv15779455, essv15779498, essv15779383
SamplesHG02879, HG03136, HG02666, HG02890, HG02808, NA18870, NA19248, HG02107, HG03121, HG00734, HG03120, NA18861, HG02657, HG02882, HG03354, NA20351, HG02108, HG02810, HG02675, NA12748, HG01896, HG03342, HG02546, HG03856, NA19093, HG03066, HG03129, HG03304, HG02896, NA19149, HG02318, HG03247, NA18511, NA19223, NA20294, NA20296, HG01956, HG03265, HG02722, HG02946, HG03571, HG01883, HG03111, HG03458, HG02146, NA18507, HG04216, HG03103, NA19320, HG02817, HG02613, HG03485, HG02433, HG02805, HG03687, HG03049, HG02836, HG01107, HG03162, HG03955, HG02053, HG02420, HG03193, HG04075, HG03300, NA19309, HG02716, HG01402, NA19900, HG02703, HG03911, NA19096, NA19351, HG03052, HG03445, HG03539, NA19256, HG01879, HG03079, NA19042, HG02757, HG02814, HG03391, NA19375, HG02562, HG03753, NA19027, HG02594, NA18502, HG02573, NA19098, HG02558, HG02611, HG03097, HG03168, NA18858, HG03366, HG03518, HG02771, NA19909, HG03433, HG02571, HG04093, NA19131, NA19159, NA19328, HG01894, HG03577, HG02614, HG03713, HG01531, HG03115, HG03385, HG03363, NA19921, HG03303, HG01393, NA18907, HG02635, HG02923, HG03875, NA19025, HG03061, HG02953, HG02144, HG03198, HG02561, HG03105, NA18879, HG03240, NA19225, HG03343, HG03259, NA19160, NA20886, HG01164, HG03369, HG01912, HG02476, NA19130, HG03271, HG02798, NA19350, HG03515, HG03695, NA19185, NA19448, HG03826, NA19092, NA18881, NA19385, NA19456, HG03824, NA19121, HG02839, HG02282, HG02610, HG03082
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641601
Frequency
Sample Size2504
Observed Gain0
Observed Loss158
Observed Complex0
Frequencyn/a


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