A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421568



Internal ID7905330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150955199..150963161hg38UCSC Ensembl
Innerchr4:151876351..151884313hg19UCSC Ensembl
Innerchr4:152095801..152103763hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg387963
hg197963
hg187963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5123682, essv5112501, essv5148924, essv5022865, essv5137140, essv5048104, essv5015361, essv5049740, essv5124381, essv5059485, essv5139017, essv5015680, essv5047051, essv5138274, essv5026580, essv5029197, essv5065411, essv5144195, essv5012998, essv5076259, essv5113790, essv5027460, essv5156808, essv5126012, essv5069144, essv5066359, essv5088356, essv5004391, essv5068757, essv5077019, essv5016590, essv5117433, essv5064388, essv5013288, essv5146358, essv5021986, essv5067012, essv5082171, essv5105940, essv5034561, essv5128107, essv5103121, essv5123991, essv5056798, essv5084680, essv5127957, essv5074554, essv5138848, essv5042034, essv5068117, essv5141037, essv5026762, essv5065222, essv5091308, essv5111322, essv5105947, essv5065580, essv5115796, essv5015343, essv5099665, essv5058580, essv5064309, essv5126349, essv5155485, essv5057800, essv5088546, essv5105014, essv5114381, essv5075306, essv5037697, essv5024907, essv5066945, essv5090267, essv5075570, essv5117553, essv5035961, essv5150110, essv5018669, essv5030846, essv5075868, essv5077809, essv5148342, essv5145036, essv5131184, essv5065753, essv5107232, essv5150101, essv5049669, essv5080060, essv5152232, essv5019804, essv5003054, essv5080039, essv5149926, essv5054633, essv5071484, essv5063225, essv5027731, essv5056358, essv5091909, essv5021678, essv5147375, essv5095277, essv5141773, essv5035258, essv5060339, essv5021494, essv5064628, essv5118335, essv5048846, essv5050699, essv5072052, essv5012562, essv5078033, essv5063328, essv5094056, essv5114100, essv5087734, essv5019765, essv5045336, essv5142398, essv5009512, essv5062161, essv5146493, essv5002024, essv5032166, essv5112376, essv5015884, essv5160964, essv5091361, essv5062837, essv5071729, essv5080297, essv5132789, essv5146874, essv5013391, essv5010014, essv5051878, essv5098199, essv5009311, essv5005066, essv5018424, essv5007394, essv5067314, essv5160490, essv5151301, essv5052061, essv5077192, essv5139911, essv5018050, essv5035628, essv5082489, essv5004509, essv5147748, essv5113962, essv5033499, essv5080125, essv5011859, essv5105742, essv5053085, essv5040025, essv5060731, essv5142365, essv5082332, essv5145355, essv5157506, essv5055733, essv5116073, essv5119663, essv5013110, essv5062661, essv5023164, essv5128660, essv5119032, essv5145854, essv5067774, essv5070571, essv5110654, essv5112126, essv5158278, essv5079094, essv5074713, essv5011657, essv5073823, essv5090253, essv5017436, essv5125800
SamplesNA19142, NA20281, NA19137, NA18870, NA19248, NA18863, NA19127, NA19194, NA21723, NA19031, NA18509, NA18520, NA19757, NA19904, NA21353, NA19321, NA18871, NA19222, NA21317, NA21580, NA21776, NA18874, NA19174, NA21478, NA21599, NA19209, NA18869, NA19310, NA21448, NA19178, NA19191, NA18511, NA18859, NA19455, NA20294, NA18516, NA19317, NA19186, NA19334, NA21423, NA19451, NA19109, NA19150, NA21479, NA19184, NA20292, NA21371, NA18855, NA19210, NA18860, NA19834, NA21425, NA20363, NA20277, NA21454, NA19108, NA19180, NA19236, NA21368, NA18506, NA18862, NA18873, NA20295, NA19226, NA18868, NA19143, NA20340, NA21400, NA19117, NA19140, NA19914, NA19046, NA19211, NA19982, NA18508, NA19239, NA19314, NA21686, NA19917, NA21488, NA21421, NA19900, NA19107, NA19396, NA19096, NA19397, NA20127, NA19440, NA19908, NA18485, NA19256, NA20282, NA21608, NA21451, NA19457, NA19700, NA19316, NA19919, NA19190, NA19213, NA19313, NA19380, NA20128, NA18518, NA19122, NA18515, NA19129, NA19172, NA19189, NA19372, NA20291, NA19703, NA19103, NA20348, NA19384, NA18498, NA18875, NA21379, NA19215, NA21689, NA19176, NA21455, NA19708, NA19705, NA19901, NA19139, NA18487, NA21364, NA21527, NA19332, NA20290, NA21784, NA21418, NA21475, NA19382, NA21616, NA20129, NA19462, NA19141, NA19902, NA21401, NA19921, NA21378, NA19669, NA21521, NA19101, NA20276, NA21344, NA20332, NA19193, NA19394, NA21601, NA18872, NA19128, NA19115, NA19123, NA21402, NA19755, NA19818, NA21480, NA19099, NA19446, NA21576, NA21620, NA21366, NA19041, NA19225, NA19327, NA19224, NA21414, NA21583, NA18924, NA19315, NA19240, NA21719, NA18853, NA19204, NA19113, NA21614, NA19381, NA18913, NA19185, NA19468, NA18519, NA20279, NA19121, NA21768
Known GenesLRBA
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)esv2421568
Frequency
Sample Size1184
Observed Gain0
Observed Loss187
Observed Complex0
Frequencyn/a


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