A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv101e199



Internal ID22757874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224945928..225060968hg38UCSC Ensembl
chr1:225133630..225248670hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38115041
hg19115041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674484, esv2667872
SamplesNA19701, NA20761, NA11830, NA12842, NA19055, HG00231, HG00142, NA20766, NA12286, NA19466, HG00361, HG00242, HG01359, HG00187, NA20783, HG01079, NA18507, NA11920, NA18599, HG01066, HG00306, HG00151, NA20816, NA20813, NA18999, NA20802, NA20532, NA12045, HG00367, NA18545, NA19819, NA19057, NA18596, NA18530, NA12058, NA18606, NA12400, NA20771, NA18510, NA12399, NA20806, NA19067, NA18602, NA12413, NA19107, NA07346, NA19076, NA18550, HG00272, NA19382, NA18597, NA19448, HG00702, HG00173, HG01168, NA18982, NA18635, NA20756, NA18567, NA18619, HG01492, NA18942, NA19062, NA18574, NA18582, NA20540, NA19313, HG00247, HG00369, HG00334, NA20513, NA19681, HG00158, NA18611, HG01134, NA12282, HG01069, NA19720, HG01067, NA18874, NA20812, NA18977, NA19075, NA18617, NA19087, NA12889, NA19002, NA20811, HG00160, NA18990, NA18520, HG01198, HG01048, NA19445, HG00178, NA20127, NA18867, HG00464, NA19007, HG01353, NA12777, HG01183, NA19247, NA20800, NA19070, NA20787, NA20505, NA19077, HG00190, NA20810, NA20760, NA19455, HG00584, HG00500, NA18572, NA20770, HG00635, NA19064, HG00740, HG01073, NA19084, HG00373, NA20581, NA12829, NA11893, NA19453, HG01101, NA19059, NA18555, HG00276, HG00152, NA12144, NA20828, NA19625, NA18593, NA12546, HG01204, NA19003, HG00258, NA18632, NA20801, HG00119, HG00265, NA19834, NA19434, NA12775, NA19072, NA18950, HG00580, HG00357, HG00734, NA20804, NA20785, NA19010, NA20790, NA20530, NA19835, NA20792, NA19439, NA19311, NA19467, HG01137, NA20516, NA19083, NA20803, NA18610, HG01489, NA19818, NA19078, HG00614, HG01491, HG00312, NA18631, NA19472, NA18987, NA12749, HG00656, NA19713, HG01055, NA19093, HG00123, NA20786, NA18873, NA20807, NA20758, NA20826, HG00377, HG00372, HG01377, NA18984, NA07056, NA11892, NA19004, HG00345, NA19063, NA18549, NA19074, HG01437, HG00581, NA19431
Known GenesDNAH14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv101e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss200
Observed Complex0
Frequencyn/a


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