A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676569



Internal ID9595988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12231868..12393054hg38UCSC Ensembl
chr10:12273867..12435053hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38161187
hg19161187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5789918, essv5961740, essv6421724, essv5724288, essv5757169, essv6023626, essv5585153, essv6537338, essv6496038, essv5548616, essv5457816, essv5955138, essv5960665, essv5922831, essv5720521, essv5625091, essv6575774, essv5765879, essv5581190, essv6436846, essv6127106, essv6214026, essv6193045, essv6354739, essv5569355, essv6013274, essv5985512, essv6097001, essv5728364, essv6360498, essv5863136, essv5395583, essv5519634, essv6426392, essv5523334, essv6322282, essv5915639, essv5476504, essv5479244, essv6348805, essv6514760, essv5622430, essv6137639, essv6531950, essv6157019, essv6445413, essv5794887, essv6080401, essv6582681, essv5772012, essv6339770, essv5695943, essv6570378, essv6064724, essv6176305, essv6350446, essv5765448, essv5939421, essv5807446, essv5755036, essv6301808, essv5710194, essv5448765, essv6353998, essv5757156, essv5912939, essv6234663, essv5434884, essv5612298, essv6164705, essv6224743, essv5627983, essv5741793, essv5572660, essv6000555, essv5858970, essv6025909, essv5958570, essv6531931, essv5816273, essv6494005, essv6492141, essv6228138, essv5855188, essv5552895, essv5764416, essv5641728, essv5864960, essv6448820, essv6189165, essv5999687, essv5516225, essv5525271, essv5982466, essv5732383, essv5638646, essv5748796, essv5488166, essv6502552, essv5440095, essv6287421, essv5862830, essv6568377, essv5895660, essv5461766, essv5546515
SamplesHG01060, HG00650, HG00442, HG00592, HG00608, HG00671, NA18561, NA19704, HG00318, HG00244, NA19777, HG00566, NA19684, HG00179, HG01051, NA07346, HG01070, HG00589, HG01351, NA18595, HG00702, HG00689, HG00610, HG00247, NA19782, HG00243, HG00281, HG00277, HG01170, HG00262, HG01072, NA18560, NA18986, NA19901, HG01198, NA19456, HG00326, HG00323, NA20515, NA18539, HG00543, HG00313, HG00137, HG00154, HG00443, HG00596, NA20524, HG01384, NA12342, NA18956, HG00436, NA19788, NA20506, NA19776, NA18548, HG01390, NA19654, HG00284, HG01073, HG00690, HG00331, HG00684, NA18856, HG00140, NA18553, HG00276, HG00704, NA19469, NA18634, HG01107, HG01204, NA18546, NA18632, NA18542, HG00336, NA18961, NA18564, HG00565, HG00353, NA19072, HG00734, HG00278, HG01174, NA20504, NA19783, HG00662, HG01342, HG00339, HG00614, HG00111, NA19779, HG00329, HG00342, NA19093, HG00310, NA19780, NA19711, NA19661, HG01378, NA20585, HG01191, HG00180, NA19346, HG00437, HG00581, NA18620
Known GenesCAMK1D, CDC123
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676569
Frequency
Sample Size1151
Observed Gain0
Observed Loss106
Observed Complex0
Frequencyn/a


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