A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594507



Internal ID6981827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226090222..226097471hg38UCSC Ensembl
chr2:226954938..226962187hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg387250
hg197250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10868433, essv10868440, essv10868456, essv10868496, essv10868461, essv10868484, essv10868455, essv10868480, essv10868492, essv10868509, essv10868471, essv10868495, essv10868468, essv10868482, essv10868531, essv10868520, essv10868506, essv10868470, essv10868521, essv10868478, essv10868494, essv10868460, essv10868522, essv10868493, essv10868465, essv10868464, essv10868513, essv10868491, essv10868532, essv10868473, essv10868448, essv10868459, essv10868474, essv10868533, essv10868515, essv10868516, essv10868445, essv10868504, essv10868503, essv10868525, essv10868530, essv10868486, essv10868498, essv10868458, essv10868483, essv10868442, essv10868517, essv10868505, essv10868441, essv10868518, essv10868477, essv10868453, essv10868437, essv10868527, essv10868499, essv10868446, essv10868476, essv10868511, essv10868507, essv10868479, essv10868508, essv10868467, essv10868449, essv10868463, essv10868502, essv10868450, essv10868510, essv10868534, essv10868526, essv10868469, essv10868462, essv10868435, essv10868500, essv10868488, essv10868529, essv10868489, essv10868514, essv10868485, essv10868475, essv10868443, essv10868497, essv10868447, essv10868444, essv10868436, essv10868528, essv10868519, essv10868501, essv10868472, essv10868452, essv10868457, essv10868466, essv10868438, essv10868439, essv10868512, essv10868481, essv10868524, essv10868487, essv10868490, essv10868523, essv10868454, essv10868451, essv10868434
SamplesHG02614, NA18502, HG02574, HG03121, HG03378, HG02583, HG03517, HG03247, NA18507, HG03057, HG03558, NA20321, HG03455, NA19393, HG03126, HG02769, HG03095, HG03464, HG03436, HG03168, NA20320, HG01488, NA19916, NA19649, HG02645, HG03246, HG02054, NA18498, HG02111, NA19038, HG02505, HG03209, HG02561, HG03189, NA19137, NA19372, HG02642, HG02471, HG02571, HG02623, HG03114, HG03369, HG02879, HG02943, HG01435, NA18934, NA19403, HG02449, HG02108, HG03457, HG02887, NA12718, HG03575, HG03159, HG01607, HG02537, HG02757, HG03311, HG03472, HG03301, NA19114, NA20299, HG03476, HG02884, NA20282, HG02979, HG03046, HG02594, NA19625, HG01956, NA19035, HG02772, NA19308, HG02330, NA19440, HG03461, HG01362, NA20351, NA20362, HG03259, HG03557, NA18501, HG03039, HG03112, HG02095, NA19716, HG03279, NA20289, NA19116, HG03470, NA19900, HG02052, HG03445, HG02763, NA19430, HG02861, HG02855, HG01111, HG03198, HG02006, NA19346, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594507
Frequency
Sample Size2504
Observed Gain0
Observed Loss102
Observed Complex0
Frequencyn/a


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