A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7e195



Internal ID20123199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29883666..29931716hg38UCSC Ensembl
chr6:29851443..29899493hg19UCSC Ensembl
chr6:29959422..30007472hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3848051
hg1948051
hg1848051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2421903, esv2421782
SamplesNA17989, NA12767, NA18621, NA20903, NA21417, NA20876, NA12818, NA12489, NA21438, NA21512, NA18616, NA21390, NA18951, NA19665, NA12286, NA19081, NA21693, NA20752, NA20510, NA18757, NA12347, NA19093, NA19120, NA19178, NA18526, NA20535, NA17982, NA12815, NA18545, NA21718, NA18128, NA20902, NA12828, NA18947, NA18134, NA20292, NA19775, NA07348, NA18507, NA19760, NA18994, NA20805, NA19685, NA20277, NA19656, NA19678, NA19915, NA18156, NA19701, NA20895, NA19180, NA18745, NA20755, NA12376, NA20521, NA21368, NA18506, NA18862, NA19761, NA19776, NA20295, NA18596, NA18949, NA19226, NA21528, NA19143, NA17993, NA12865, NA19077, NA19062, NA19067, NA18979, NA18998, NA19085, NA18967, NA19650, NA20875, NA12056, NA18627, NA20849, NA19059, NA19076, NA21493, NA18957, NA18536, NA19660, NA21716, NA18622, NA18960, NA12864, NA18618, NA07357, NA18623, NA19471, NA19900, NA18162, NA12873, NA18641, NA18990, NA21301, NA18118, NA18991, NA18930, NA18636, NA18592, NA19088, NA21587, NA12761, NA18638, NA21513, NA19066, NA21453, NA18959, NA20765, NA21116, NA19182, NA20364, NA12829, NA18485, NA11894, NA18973, NA19835, NA20282, NA18916, NA19773, NA18593, NA19056, NA19663, NA20892, NA19457, NA12777, NA18634, NA18643, NA19086, NA18970, NA19324, NA19000, NA19055, NA19313, NA18149, NA19129, NA19759, NA17966, NA17988, NA18120, NA18572, NA18954, NA19680, NA19094, NA20760, NA20512, NA21316, NA18923, NA20345, NA20795, NA20826, NA21434, NA12275, NA18875, NA19119, NA21141, NA18106, NA18151, NA20540, NA21455, NA18558, NA18977, NA19664, NA19901, NA19139, NA19175, NA19836, NA20350, NA19763, NA11892, NA18487, NA18942, NA18961, NA20774, NA18613, NA19001, NA20582, NA18997, NA10836, NA20766, NA19074, NA19159, NA18125, NA17987, NA20813, NA19789, NA19902, NA18940, NA21103, NA20297, NA12891, NA18582, NA18999, NA20581, NA18597, NA21378, NA19138, NA20358, NA20756, NA21682, NA18599, NA18909, NA18955, NA20357, NA21420, NA19078, NA21439, NA18995, NA20302, NA21344, NA19403, NA19128, NA18133, NA19009, NA21109, NA19116, NA10835, NA20287, NA18971, NA18602, NA10845, NA19099, NA18146, NA19649, NA21086, NA18141, NA18946, NA19064, NA21366, NA17976, NA19749, NA18944, NA19063, NA19225, NA19327, NA21117, NA19224, NA21414, NA12546, NA21436, NA12248, NA18571, NA18924, NA19198, NA18610, NA20758, NA21597, NA12817, NA19118, NA20872, NA20792, NA21356, NA18108, NA10840, NA19171, NA19346, NA20528, NA12874, NA17968, NA18112, NA21355, NA19079, NA20524, NA12760, NA17965, NA20517, NA21091, NA19200, NA19661, NA19456, NA20301, NA17995, NA19202, NA19058, NA10864, NA21494, NA18962, NA21526, NA07435, NA20281, NA19183, NA20887, NA18863, NA19625, NA21142, NA20874, NA19352, NA11930, NA18158, NA20522, NA21524, NA20859, NA12802, NA20866, NA18561, NA21317, NA18952, NA21776, NA18874, NA19173, NA12752, NA12875, NA20906, NA21448, NA20343, NA20508, NA19149, NA19072, NA18639, NA19317, NA12813, NA19751, NA18969, NA18972, NA19010, NA18608, NA19184, NA18855, NA21385, NA19834
Known GenesHCG4B, HLA-H
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)dgv7e195
Frequency
Sample Size1184
Observed Gain0
Observed Loss325
Observed Complex0
Frequencyn/a


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