A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661691



Internal ID9927796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46314067..46315468hg38UCSC Ensembl
chr19:46817324..46818725hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6429521, essv6006491, essv6555806, essv5716545, essv6273783, essv5924800, essv5559876, essv5960137, essv5611615, essv5945993, essv5642418, essv6531418, essv6224566, essv6223163, essv6004794, essv6337347, essv6444533, essv6577291, essv6148589, essv6010015, essv5979100, essv5729574, essv5780217, essv5758788, essv5520064, essv5934698, essv6328060, essv5639242, essv6430129, essv5429020, essv5607171, essv6085342, essv5613776, essv6249376, essv6409468, essv6236113, essv5924400, essv5824456, essv5451433, essv6294623, essv6532763, essv6092944, essv5919816, essv5724297, essv5944996, essv6349743, essv6288773, essv5552717, essv5980205, essv6341608, essv6544998, essv6147030, essv5891364, essv6008167, essv6531527, essv5892784, essv6298470, essv5869672, essv5623289, essv5627030, essv6137049, essv6437005, essv5724685, essv6177784, essv5819572, essv6205200, essv6160846, essv6333801, essv5966841, essv6015115, essv5700464, essv5685611, essv6496732, essv5442523, essv5406504, essv6170698, essv6092166, essv5775205, essv5831120, essv6430217, essv6367891, essv5787927, essv5975938, essv6269417, essv6204200, essv5663943, essv5946752, essv6012655, essv6410183, essv5401977, essv5756103, essv5978696, essv5608729, essv5910485, essv6085117, essv6348114, essv6473935, essv6304527, essv6204091, essv5887935, essv6104300, essv5948548, essv5936749, essv5697541, essv5513438, essv5520753, essv5571670, essv5495570, essv6564224, essv5424796, essv6413929, essv5967758, essv5444066, essv5421775, essv6338367, essv5800445, essv5781881, essv5792993, essv6360257, essv5426377, essv6060759, essv5702071, essv6576255, essv5950401, essv5726586, essv5964181, essv5723756, essv5425350, essv5565832, essv5501588, essv6230374, essv5876592, essv5723871, essv6270300, essv5405249, essv6059811, essv5969947, essv5577547, essv6077394, essv6142881, essv6259926, essv5660898, essv6389767, essv6307752, essv5573738, essv5705964, essv6533283, essv6116963, essv6160808, essv5504732
SamplesHG00189, NA19648, HG01173, NA19058, NA19055, NA18621, HG01052, NA18565, HG01066, HG00315, NA18999, NA19057, HG00566, NA20332, NA18959, NA18616, HG00654, NA18633, HG01140, NA18988, NA18627, NA12341, HG00663, NA18967, NA19374, HG00138, NA19660, NA19005, NA18944, NA18940, NA18550, HG01488, HG00448, HG01168, NA18982, HG00330, HG01492, NA18942, NA19062, NA19771, NA19457, NA19054, HG01365, NA18964, NA19079, NA18949, HG01134, NA12282, HG01069, HG00683, HG01170, HG00236, NA18977, HG00262, HG00534, NA19075, NA19087, NA19002, NA18990, HG01198, NA18975, HG00464, HG01124, HG00313, HG00154, NA18951, NA18544, NA20535, NA18613, HG00629, NA20800, HG00443, NA18538, NA19070, NA12342, NA19077, HG00428, HG00584, HG00344, NA19081, NA18572, NA18976, NA18948, NA18534, NA18630, NA18981, HG00708, HG00635, NA19449, NA19084, HG00684, HG01383, HG00525, NA18553, NA19059, NA19009, HG00276, NA18963, HG01107, NA18945, NA19012, NA18546, HG01148, NA19003, HG00611, NA18632, NA18961, NA18952, NA18559, NA19072, NA18950, HG00734, NA18941, NA19010, HG00319, NA19083, HG01108, NA19783, NA19085, HG00620, NA19818, HG00707, HG00672, HG00614, HG00513, NA19785, NA19779, NA18987, NA18873, NA19080, NA19213, HG00343, NA18983, NA19661, HG00595, NA18989, HG01378, NA19004, HG01082, HG01125, NA19463, NA19063, NA18612, HG00180, NA19074, NA18622, HG00437, HG00581, NA18965, NA18620
Known GenesHIF3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661691
Frequency
Sample Size1151
Observed Gain0
Observed Loss150
Observed Complex0
Frequencyn/a


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