A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2658533

Internal ID9577952
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152385350..152385825hg38UCSC Ensembl
chr7:152082435..152082910hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2658533
Sample Size1151
Observed Gain0
Observed Loss193
Observed Complex0

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