A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658533



Internal ID9577952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152385350..152385825hg38UCSC Ensembl
chr7:152082435..152082910hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6357355, essv5763354, essv6497297, essv6565605, essv6357136, essv6570094, essv6275987, essv5727956, essv5406401, essv5983236, essv5626189, essv5974030, essv5978994, essv5846062, essv6465127, essv5530013, essv5648950, essv5782204, essv5417907, essv5711687, essv6119901, essv6234910, essv6596900, essv6240704, essv6299700, essv5772161, essv5615373, essv6059691, essv6140424, essv5579059, essv5594402, essv5679938, essv5831582, essv6344245, essv5853717, essv6008300, essv6315251, essv5998985, essv5893756, essv6290944, essv6522304, essv5467664, essv6034104, essv6099146, essv5524873, essv6313756, essv5799458, essv5635278, essv6002492, essv5785878, essv6538319, essv5958359, essv6353336, essv5414106, essv5774490, essv5457129, essv5962280, essv6287165, essv6533921, essv5623528, essv6011698, essv6295406, essv6572603, essv5604596, essv6161155, essv5473582, essv5666070, essv5887814, essv6210807, essv6447300, essv6239480, essv6255572, essv6562662, essv5775055, essv6231746, essv5561995, essv5638017, essv6491087, essv5644693, essv6200241, essv6125439, essv6287429, essv5611005, essv6530020, essv6053543, essv6247825, essv5889031, essv5450281, essv5889494, essv5508634, essv6030950, essv6500574, essv6430363, essv6468783, essv5699543, essv5890682, essv5996907, essv6338317, essv6197525, essv6214776, essv6534996, essv5814956, essv5506593, essv5961291, essv6245400, essv5715738, essv5626170, essv5524162, essv5743600, essv5794358, essv5515766, essv6062786, essv5637355, essv5970309, essv6313038, essv6524987, essv6565621, essv5703893, essv5733410, essv6399997, essv5483833, essv5934382, essv6434675, essv6134222, essv5656938, essv6039156, essv6367684, essv6580698, essv5598729, essv6284140, essv6584195, essv5970837, essv6520298, essv5713462, essv5796085, essv6245383, essv6356620, essv5951298, essv5964155, essv5673503, essv6005176, essv6459785, essv5426777, essv5742982, essv6231034, essv6484520, essv5577364, essv5681704, essv5923647, essv5627804, essv5539459, essv6020743, essv5510892, essv6264120, essv6430540, essv5811363, essv6086920, essv5791183, essv6420139, essv5660559, essv6447693, essv5610809, essv6010685, essv5982873, essv5525092, essv5827462, essv6506088, essv6444700, essv5720394, essv5558512, essv6457462, essv5427181, essv5594519, essv5560295, essv5669836, essv6324464, essv6584663, essv6246422, essv6409719, essv6584335, essv6095199, essv6065529, essv5414449, essv5774462, essv6233855, essv5483782, essv5789156, essv5932179, essv6083593, essv5706129, essv6447676, essv5915084, essv6248725
SamplesNA19137, NA18621, NA18964, NA19152, NA19445, HG00734, NA18861, NA19712, NA18520, NA20278, NA18534, NA18871, HG01075, NA19819, NA19404, NA18523, NA19114, HG00705, HG01342, NA18612, NA19209, NA19093, NA19401, HG00449, NA19072, NA18511, NA19223, NA19455, NA19435, NA19319, NA19430, NA18516, HG01365, NA12813, NA19453, HG01082, NA18953, NA18972, NA19920, NA19144, NA19210, HG00698, NA07051, NA20314, NA19004, NA19108, NA18965, NA19236, NA19355, NA18505, NA18950, NA19147, NA19438, NA18868, NA20340, HG01107, NA19463, HG00556, NA11919, NA19383, NA18508, NA18967, NA19239, NA19390, NA19068, NA19917, NA18536, HG00638, NA18960, NA19197, NA07357, NA18623, NA19471, NA18856, NA18638, NA18956, NA19398, NA19429, NA19440, NA19908, NA19066, NA18976, NA20282, NA20336, NA18916, NA18982, NA19681, NA19457, NA18634, NA19190, NA19213, NA19380, NA19395, NA19153, HG00124, NA12716, NA19129, NA19172, NA19189, NA12892, NA19372, NA19375, NA19393, NA19373, NA18498, NA18486, NA18968, NA19102, NA06986, NA18522, NA19238, NA19005, NA18510, NA18502, NA19119, NA19731, HG00239, HG00672, HG01069, NA18504, NA18858, NA18961, NA19347, NA19909, NA19707, NA19131, NA19159, NA18910, NA19382, HG00377, NA19318, NA18974, NA18985, NA18606, NA18543, NA18940, NA19235, NA10851, NA18582, NA18597, NA19138, NA19376, HG00443, NA18599, NA18907, NA18909, NA19391, NA19201, NA18538, NA19394, NA19403, NA18565, NA12156, NA19116, NA18989, NA18544, NA18971, NA19434, NA19818, NA19099, NA19446, NA19452, HG00530, NA12003, HG01464, NA18944, NA19225, NA19399, NA19160, HG01366, NA19371, HG00708, HG01108, HG01125, NA11829, NA19171, NA19240, NA18532, NA18853, NA19204, HG01374, NA18981, NA19350, HG01377, HG00476, HG00671, NA19468, NA19200, NA18519, NA19746, HG00531, NA18553, NA19439
Known GenesKMT2C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658533
Frequency
Sample Size1151
Observed Gain0
Observed Loss193
Observed Complex0
Frequencyn/a


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