A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv404e199



Internal ID22758177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77220302..77222299hg38UCSC Ensembl
chr14:77686645..77688642hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381998
hg191998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663347, esv2668851
SamplesHG00650, HG00542, HG00442, HG01173, HG00143, HG00671, HG00257, HG00315, HG00233, HG00244, HG00181, HG00737, HG00449, HG00654, HG01051, HG00261, HG00337, HG00271, HG00663, HG00641, HG00138, HG00589, HG00122, HG01167, HG01168, HG01083, HG00334, HG00537, HG00158, HG00512, HG00281, HG00139, HG01069, HG01080, HG00335, HG00148, HG00156, HG00325, HG00232, HG00534, HG00705, HG00160, HG01198, HG01048, HG00326, HG00323, HG00253, HG00137, HG00154, HG00731, HG00443, HG00268, HG00266, HG01171, HG00282, HG00557, HG00245, HG00732, HG01095, HG00657, HG00556, HG00583, HG00344, HG00263, HG00275, HG00692, HG00740, HG01047, HG00324, HG00284, HG00651, HG00250, HG00690, HG00531, HG00479, HG00331, HG00684, HG01101, HG00140, HG01334, HG00152, HG00146, HG00704, HG00463, HG00246, HG00126, HG01107, HG01075, HG00258, HG00611, HG00155, HG00254, HG00336, HG00625, HG00353, HG00580, HG00734, HG01174, HG00473, HG00237, HG00116, HG00662, HG00418, HG00620, HG00339, HG00614, HG00513, HG00478, HG00259, HG00342, HG00267, HG00310, HG00112, HG00280, HG00274, HG00628, HG00553, HG00581, HG00626, HG00096, HG01060, HG00536, HG00231, HG00249, HG00361, HG00524, HG01052, HG00187, HG01079, HG00100, HG01188, HG00640, HG00367, HG00318, HG00566, HG00177, HG00327, HG01070, HG00251, HG00501, HG00702, HG00689, HG00448, HG00173, HG00330, HG00736, HG00610, HG00346, HG00590, HG00277, HG01067, HG00120, HG00683, HG00106, HG01170, HG00236, HG00262, HG01072, HG00422, HG01176, HG00309, HG00427, HG00338, HG00159, HG00530, HG00419, HG00264, HG00464, HG00108, HG00260, HG00543, HG00313, HG00133, HG01183, HG00629, HG00183, HG00176, HG01187, HG00596, HG00328, HG00428, HG00190, HG00653, HG00577, HG00701, HG00475, HG00436, HG00320, HG00584, HG00533, HG00500, HG00619, HG00708, HG00635, HG01073, HG00273, HG00373, HG01197, HG01182, HG00117, HG00613, HG00525, HG00321, HG00157, HG00276, HG01204, HG00476, HG00124, HG00119, HG01190, HG00285, HG00375, HG00136, HG00278, HG00607, HG00319, HG01108, HG00256, HG00269, HG00125, HG00707, HG00672, HG00111, HG00421, HG00329, HG00656, HG01055, HG00174, HG00123, HG00186, HG00698, HG00131, HG00343, HG00252, HG00472, HG01082, HG00345, HG00554, HG01191, HG00180, HG01061, HG00437
Known GenesTMEM63C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv404e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss242
Observed Complex0
Frequencyn/a


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