A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672638



Internal ID9592057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40647353..40650099hg38UCSC Ensembl
chr19:41153258..41156004hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382747
hg192747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5832639, essv5781504, essv5402655, essv6412257, essv5416677, essv5415302, essv5694044, essv6152504, essv5795859, essv5706797, essv6005747, essv5528597, essv5556090, essv6557882, essv6504046, essv6364099, essv6483365, essv5397025, essv6383257, essv5879194, essv6308295, essv6448580, essv5692499, essv5661531, essv5868706, essv5448550, essv6265909, essv6451638, essv5438046, essv5806491, essv6450782, essv5807276, essv6117227, essv6032344, essv6509109, essv6135947, essv5801516, essv5552155, essv5825805, essv6413991, essv5959832, essv6506527, essv5466909, essv6171174, essv6081993, essv5840407, essv6180648, essv6059398, essv5627285, essv6147029, essv6198481, essv5813944, essv5481915, essv5468807, essv6584481, essv6288932, essv5883182, essv5959761, essv6112776, essv6157244, essv6595561, essv6109806, essv5465686, essv6344229, essv5906196, essv5589321, essv6551300, essv6208065, essv5664988, essv5871943, essv6086327, essv6242099, essv6109562, essv5561580, essv5518765, essv6498961, essv6508155, essv6478615, essv6420340, essv6196871, essv6353680, essv5434144, essv5671772, essv5664251, essv5804429, essv5727316, essv5675959, essv5930674, essv5735889, essv5824737, essv6113652, essv5957813, essv5440518, essv5503447, essv5477954, essv6248598, essv6142649, essv6000524, essv5769047, essv6406722, essv5786808, essv5771146, essv5773021, essv5912580, essv5776275, essv5404552, essv5575634, essv6593848, essv6591121, essv6166790, essv5645959, essv6440874, essv5972440, essv6145613, essv5806018, essv6589990, essv6463965, essv5829910, essv5553850, essv5571367, essv6294812, essv6082118, essv6374816, essv5659810, essv5576891, essv5910905, essv5826661, essv5727957, essv6034114, essv6346297, essv6376504, essv6167612, essv6532239, essv5801079, essv6135136, essv5485912, essv6304662
SamplesNA19394, HG00189, NA19700, NA19703, NA19397, NA18924, HG00142, HG00249, NA18508, NA19399, HG01052, NA20783, HG01079, NA20514, NA19704, HG01066, HG00318, HG00244, NA20294, NA19377, NA12058, HG00737, HG01461, NA12400, HG01051, NA12750, NA20814, NA07346, NA19374, NA19373, NA20796, HG01366, HG00272, HG00122, NA20798, NA19678, HG00173, NA19916, HG00330, NA12348, HG00736, HG00346, NA20768, NA19313, NA12287, HG00369, NA18498, NA19404, HG00281, HG00139, NA12275, NA19651, NA19383, HG00335, NA18874, NA20819, HG00262, NA19372, NA19235, NA19385, NA19471, NA19317, HG01176, HG00309, HG00160, HG00637, HG00338, HG00159, NA19921, NA19451, NA12748, HG00108, HG01136, HG00154, HG00731, HG00266, HG01171, HG00282, NA19707, NA19403, HG00328, HG00245, NA12342, NA19462, NA19347, HG00190, HG00732, NA20810, NA20760, NA19391, NA19236, NA20770, NA18907, HG01047, HG00324, HG00273, NA19449, NA12249, NA18853, HG00276, NA19452, HG00246, NA19625, NA18858, HG01107, NA19675, NA19436, NA18576, HG00124, NA12716, NA19390, HG01190, HG00336, HG00285, HG00265, NA19712, NA19434, HG00366, NA19473, HG00375, NA20804, NA19444, NA19380, NA07051, NA19467, NA20797, HG01489, NA12347, HG00125, NA20582, NA20510, HG00372, HG01125, HG00171, NA12154, HG00554, HG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672638
Frequency
Sample Size1151
Observed Gain0
Observed Loss137
Observed Complex0
Frequencyn/a


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