A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674106



Internal ID9940211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1967647..1968330hg38UCSC Ensembl
chr19:1967646..1968329hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6009750, essv6557852, essv5457630, essv6024080, essv5944094, essv5652537, essv5440929, essv5616004, essv5966884, essv6228161, essv5680269, essv5697485, essv6357091, essv6067336, essv5549986, essv5878880, essv6426653, essv5620665, essv6227658, essv6217639, essv6220270, essv5887256, essv6396850, essv5673359, essv6528424, essv6165565, essv5594731, essv6488916, essv5542548, essv6251402, essv5789570, essv5766546, essv5516148, essv5989946, essv5944486, essv6128259, essv6342373, essv6460515, essv6474986, essv6236647, essv5608904, essv6473668, essv5675440, essv5997082, essv6198079, essv6277849, essv6411576, essv6101793, essv5741277, essv6367871, essv6487528, essv6263274, essv5665783, essv6577640, essv6219331, essv5877703, essv5676193, essv6344658, essv6267462, essv5535444, essv6280441, essv6140091, essv6329148, essv5471311, essv5418525, essv6549831, essv5707190, essv5929409, essv5790983, essv6373371, essv5840985, essv5915116, essv6540978, essv6207210, essv6156187, essv5484990, essv6062707, essv6478393, essv6474440, essv6011616, essv6036485, essv5933413, essv5519828, essv6502484, essv6565399, essv5814450, essv6065991, essv5668214, essv6253972, essv6539505, essv6129160, essv6433992, essv6461171, essv5858166, essv5932615, essv5577011, essv5554586, essv6042906, essv5749797, essv5616224, essv6303563, essv6372206, essv5849537, essv6555092, essv6427445, essv5627691, essv5489394, essv6536278, essv5805908, essv5829589, essv5515039, essv5629877, essv6191197, essv5431080, essv6118624, essv5560612, essv6566112, essv6571237, essv5397227, essv5927052, essv5830810, essv6573644, essv5431226, essv5712252, essv6330082, essv5893246, essv5870249, essv6302704, essv5799583, essv6305851, essv5675350, essv6575936, essv6406868, essv6590535, essv6410758, essv6473154, essv5559046, essv6085680, essv6253877, essv6348128, essv6264225, essv5820210, essv5514112, essv6390919, essv6218295, essv5852867, essv5491009, essv6446574, essv6377281, essv5692326, essv5560813, essv5538372, essv6543045, essv5504571, essv5536965, essv6535228, essv5893086, essv5767150, essv5753762, essv5799713, essv5589355, essv5763891, essv6576942, essv6046533, essv5578311, essv5971689
SamplesNA19394, NA19701, NA19700, HG00592, NA19703, HG00231, NA19397, NA19909, HG00249, NA19466, NA19399, NA19914, HG00257, HG00244, NA19359, HG00103, NA19355, NA19819, NA19393, NA20332, NA19684, NA19377, NA18606, NA20346, NA19443, NA20356, NA19920, HG00261, NA19446, NA19374, HG00138, HG00127, NA19381, NA19373, NA19379, NA18550, HG00251, NA19319, HG00122, NA19382, NA19315, NA20317, NA19457, NA19313, NA20287, NA19681, NA19904, NA19384, HG00243, HG00158, NA19404, HG00139, HG01080, HG00120, NA19383, HG00148, HG00106, HG00236, HG00156, HG00262, NA18560, NA19471, NA19317, NA19901, HG00160, HG00118, NA18990, HG00159, NA19456, NA19445, NA20127, HG00253, NA19921, NA19451, HG00264, HG00108, HG00137, HG00133, HG01183, HG00154, NA19657, NA19437, NA19707, NA19403, HG00245, NA19462, HG00657, NA19327, NA19455, NA20314, NA19982, HG00583, NA19081, HG00263, NA20126, HG00273, NA19461, HG00250, NA19449, NA19453, HG00117, HG00157, HG00140, NA20282, HG00146, NA19452, NA19469, NA19395, HG00126, NA19625, NA18593, NA19436, NA20296, NA19375, HG00258, HG00124, HG00155, NA19440, HG00254, HG00119, NA19390, NA19834, NA19321, NA19434, HG00136, NA19435, NA19331, NA19380, NA19835, HG01494, HG00237, NA19439, NA19470, NA19428, NA19324, NA19311, NA19786, NA19467, HG00116, NA19360, HG00256, HG00125, NA19818, NA19376, NA19398, HG00111, HG00259, NA19438, NA19472, NA20334, NA19713, NA19474, HG00123, NA20289, HG00698, HG00131, NA19711, NA19900, HG00252, NA19430, NA19316, NA19312, NA20322, NA19463, NA19429, NA19431
Known GenesCSNK1G2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674106
Frequency
Sample Size1151
Observed Gain0
Observed Loss166
Observed Complex0
Frequencyn/a


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