A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421952



Internal ID7905714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54748501..54837236hg38UCSC Ensembl
Innerchr19:55259953..55348691hg19UCSC Ensembl
Innerchr19:59951765..60040503hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3888736
hg1988739
hg1888739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5045480, essv5088644, essv5055197, essv5119790, essv5081235, essv5099673, essv5089017, essv5010643, essv5114662, essv5022756, essv5048988, essv5128664, essv5007915, essv5039474, essv5137780, essv5096728, essv5142841, essv5061829, essv5089581, essv5110454, essv5064724, essv5120727, essv5046650, essv5087033, essv5028971, essv5045350, essv5018300, essv5064723, essv5151553, essv5129686, essv5082525, essv5039161, essv5056428, essv5096697, essv5033085, essv5021797, essv5102002, essv5004528, essv5127409, essv5081430, essv5018391, essv5160219, essv5097063, essv5038715, essv5031809, essv5077478, essv5055833, essv5054841, essv5075898, essv5100086, essv5054617, essv5100654, essv5006217, essv5159350, essv5134947, essv5158763, essv5096884, essv5133954, essv5010684, essv5091496, essv5025043, essv5158648, essv5050008, essv5053986, essv5138705, essv5073904, essv5089692, essv5130704, essv5038407, essv5117118, essv5042394, essv5031952, essv5078628, essv5095798, essv5062039, essv5039477, essv5058895, essv5119379, essv5059677, essv5060355, essv5069845, essv5068093, essv5129637, essv5002254, essv5009585, essv5052526, essv5117867, essv5023170, essv5156611, essv5108348, essv5130931, essv5004469, essv5141793, essv5094372, essv5035982, essv5086629, essv5061826
SamplesNA19142, NA19137, NA19146, NA12827, NA19248, NA19194, NA10865, NA19712, NA21125, NA20527, NA18914, NA21297, NA20506, NA21578, NA19404, NA21613, NA19310, NA19311, NA17990, NA20888, NA17982, NA20294, NA19319, NA18124, NA19359, NA19186, NA21423, NA19449, NA20342, NA18573, NA19184, NA20894, NA21415, NA19834, NA11891, NA21312, NA20895, NA19236, NA19147, NA20295, NA19143, NA19028, NA21314, NA20284, NA18912, NA19046, NA19148, NA21686, NA19390, NA21097, NA19309, NA18592, NA21363, NA18609, NA20282, NA19181, NA18643, NA19919, NA21740, NA18537, NA19122, NA19372, NA19238, NA19119, NA21574, NA21648, NA19139, NA19332, NA19909, NA18613, NA21100, NA19074, NA18910, NA21092, NA21616, NA19307, NA19789, NA19462, NA19141, NA21313, NA21521, NA18911, NA19193, NA19128, NA18857, NA21109, NA21360, NA19041, NA20869, NA19371, NA20758, NA19240, NA19204, NA19473, NA21091, NA19385, NA20899
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
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)esv2421952
Frequency
Sample Size1184
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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