A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv550e199



Internal ID22758323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37418837..37422429hg38UCSC Ensembl
chr17:35778921..35782535hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383593
hg193615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2664726, esv2656745
SamplesNA19312, NA19063, NA19065, HG00554, HG01191, NA19074, HG00553, HG00581, NA18577, NA18620, HG00626, HG01060, HG00189, HG00114, NA20761, HG00650, NA19648, NA11830, HG01173, NA19058, NA20529, HG01521, NA20543, NA18621, NA19066, NA18861, HG00559, NA20531, HG00315, HG00151, NA20752, NA20802, NA18603, HG00699, NA18596, NA18530, NA20808, NA18616, HG01518, NA20507, HG00654, NA18526, NA18633, NA12155, NA07357, HG01522, HG00693, HG00663, NA07346, HG00138, HG01350, NA18944, HG00589, NA18597, NA18489, NA18595, HG00689, NA18982, NA18619, HG00330, HG00634, HG00610, NA19062, NA18574, HG01354, HG00247, NA19054, HG00334, NA20287, NA18964, HG00537, HG00590, NA20541, NA11930, HG01134, NA20759, HG01080, HG01067, HG00120, NA19383, NA06984, HG01170, HG00236, NA19719, HG00232, NA20340, NA12044, NA19075, NA18617, HG00422, HG01440, HG00309, NA19002, HG00118, NA18990, NA20533, NA18908, HG00323, HG00530, NA20515, NA20755, HG00464, HG00108, NA20818, NA18614, HG00313, HG00137, NA18544, NA19908, HG00183, NA19056, HG00596, NA12342, NA12003, NA20809, HG00577, NA20810, NA20760, NA20536, NA19391, HG00475, HG00556, HG00320, HG00583, NA18637, HG00500, HG00275, NA18579, NA18572, NA18534, HG00619, HG00239, NA20525, NA19654, HG01102, HG00651, NA19000, NA18626, HG00690, HG00404, HG00373, HG00479, HG01197, HG00331, HG01383, HG00525, HG00321, HG00140, NA12827, NA19059, NA18536, NA18570, NA18634, NA12043, NA19401, NA19003, NA18632, NA20522, NA18542, NA18535, HG00285, HG00265, NA18961, NA18952, NA18564, NA18628, HG00580, HG00357, NA19773, NA07051, NA19010, NA12046, NA20544, HG00319, HG00116, NA20797, NA07037, HG00256, NA19783, HG01489, NA06986, NA19818, NA18501, HG00614, HG01491, HG00656, HG01055, HG00174, NA20510, NA20786, HG00112, NA20758, HG00343, NA20528, NA19900, NA18983, NA20503, HG01377, HG00472, NA11892
Known GenesTADA2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv550e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss200
Observed Complex0
Frequencyn/a


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