A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658280



Internal ID9577699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11184166..11185829hg38UCSC Ensembl
chr19:11294842..11296505hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381664
hg191664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6134816, essv6554767, essv5619495, essv6348928, essv5920552, essv6357675, essv5558173, essv6197160, essv6066048, essv5766717, essv5667909, essv6358105, essv6400069, essv6368518, essv5680426, essv5624007, essv5547341, essv6378910, essv5915070, essv5827897, essv5453810, essv5465454, essv6562835, essv5450334, essv6012696, essv5580086, essv5929971, essv6349127, essv5850556, essv5449939, essv5965686, essv5494475, essv5657644, essv6341705, essv5832478, essv5757751, essv5564629, essv5647782, essv6241653, essv5576503, essv5945633, essv5503994, essv6143187, essv6423985, essv5858370, essv6185381, essv5518999, essv6161324, essv5791170, essv5484044, essv6218141, essv6014730, essv5693632, essv6112520, essv6261433, essv6398971, essv5510286, essv5529578, essv6056865, essv6302218, essv6492677, essv6204837, essv6430491, essv6179137, essv5488342, essv5511514, essv6540662, essv6339230, essv6072032, essv5476673, essv6527570, essv6260682, essv5979780, essv6308478, essv5750971, essv6187490, essv6540142, essv6409905, essv6329381, essv5789400, essv6068283, essv6128466, essv6479388, essv5969510, essv6294943, essv6041114, essv6203802, essv6093575, essv5754410, essv5546564, essv6379939, essv5937786, essv6341196, essv5674487, essv6227315, essv5902394
SamplesNA19445, NA19436, HG01440, NA12748, NA18616, NA20771, NA20522, HG01055, NA07056, NA12347, NA19093, NA19401, NA11918, NA19003, NA06989, NA19359, HG00189, NA19788, HG01492, NA19453, HG01082, HG01488, HG00326, NA19379, HG01188, NA19685, HG01101, HG00578, HG00177, NA19780, NA19776, HG00635, NA19762, HG01148, NA11919, NA19982, NA19085, NA20533, NA19660, HG00140, NA20530, HG01495, HG00141, HG00338, HG00178, HG00125, HG01360, NA11843, NA12829, NA19773, NA18982, NA19663, HG00276, NA19700, HG00343, HG00584, NA19728, HG01497, NA19676, NA19247, HG00267, HG00124, NA20291, NA12778, NA18486, HG00265, HG01170, HG01069, NA19704, NA20797, NA20766, HG00246, NA19318, NA20813, NA19462, HG00151, HG01190, HG00181, NA19391, NA06984, NA19431, NA19327, NA12842, NA19655, HG00142, NA19916, NA19070, NA19346, HG00119, NA20528, NA18853, HG01462, NA19661, NA19746, HG00327, HG00361
Known GenesKANK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658280
Frequency
Sample Size1151
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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