A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657498



Internal ID9923603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:21158793..21165249hg38UCSC Ensembl
Outerchr4:21158422..21165969hg38UCSC Ensembl
Innerchr4:21160416..21166872hg19UCSC Ensembl
Outerchr4:21160045..21167592hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg387548
hg197548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5702670, essv6188961, essv5995143, essv5771966, essv6251696, essv5396994, essv5843257, essv6273153, essv5735298, essv5619365, essv5845282, essv5430391, essv6561757, essv6010160, essv6587101, essv6489229, essv6250759, essv5585644, essv5813349, essv6221558, essv5654599, essv5831527, essv5440397, essv5927453, essv6405302, essv6049292, essv6295478, essv6362114, essv6545436, essv6058275, essv5787347, essv5642443, essv5791069, essv6098625, essv6355879, essv5604945, essv5568446, essv6070012, essv5879825, essv6169326, essv6135221, essv6226214, essv6157033, essv5765030, essv6127322, essv5742813, essv6386069, essv5571251, essv5505857, essv6337691, essv6456360, essv6066645, essv5589291, essv5422212, essv5836197, essv6027162, essv5501128, essv6276112, essv5689980, essv5648739, essv6300249, essv6167250, essv5993168, essv6032552, essv5469823, essv6320234, essv5958347, essv5594889, essv5458333, essv5646617, essv5603725, essv5968488, essv5978791, essv5970095, essv6372804, essv6053049, essv5944622, essv6222967, essv5919205, essv5638028, essv6358894, essv6384288, essv6087006, essv5805725, essv6526077, essv6463961, essv6046805, essv6420713, essv5654528, essv6499134, essv5684797, essv6281865, essv6479614, essv5498779, essv6092431, essv5790973, essv6581882, essv6430167, essv6084830, essv6364010, essv5690720, essv6411769, essv5404340, essv5968264, essv5904208, essv6205048, essv5715055, essv6474712, essv6170510, essv6474262, essv6479201, essv5773437, essv5582085, essv6339846, essv5446868, essv5844675
SamplesNA18502, NA12717, NA11830, NA11995, NA11829, NA19204, NA18861, NA18508, NA10851, NA12414, NA18507, NA12843, NA11920, NA11933, NA11931, NA12045, NA18486, NA12751, NA12004, NA18504, NA19190, NA18870, NA12400, NA18510, NA12750, NA12399, NA07357, NA12341, NA07346, NA18519, NA18489, NA19119, NA19131, NA18916, NA11992, NA07048, NA11918, NA07347, NA12287, NA19138, NA18498, NA19130, NA12761, NA11930, NA12282, NA12156, NA06984, NA18868, NA19137, NA11932, NA12044, NA11994, NA19207, NA19172, NA12889, NA19159, NA12828, NA19200, NA11993, NA11831, NA10847, NA12489, NA12003, NA19152, NA18516, NA18910, NA18871, NA18907, NA19114, NA11919, NA12829, NA18499, NA11894, NA18856, NA12249, NA18912, NA06989, NA18853, NA12827, NA19099, NA19257, NA19225, NA12144, NA18523, NA19160, NA18858, NA12043, NA12716, NA18909, NA11881, NA19108, NA19147, NA18517, NA19144, NA07051, NA12046, NA07037, NA12763, NA06986, NA18501, NA19248, NA12749, NA19093, NA19102, NA11843, NA19213, NA18505, NA19129, NA12006, NA18511, NA07000, NA18522, NA12154, NA18487, NA19153, NA12776
Known GenesKCNIP4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657498
Frequency
Sample Size1151
Observed Gain0
Observed Loss116
Observed Complex0
Frequencyn/a


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