A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2421783

Internal ID7905545
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64963532..64964114hg38UCSC Ensembl
Innerchr1:65429215..65429797hg19UCSC Ensembl
Innerchr1:65201803..65202385hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5063334, essv5109181, essv5094736, essv5066518, essv5085543, essv5043503, essv5138124, essv5004282, essv5057689, essv5138245, essv5032463, essv5092611, essv5013325, essv5063319, essv5136823, essv5145137, essv5054997, essv5095205, essv5093865, essv5087965, essv5069662, essv5072144, essv5079483, essv5033536, essv5152928, essv5066651, essv5149570, essv5149712, essv5088555, essv5006625, essv5152768, essv5058399, essv5073697, essv5019376, essv5052164, essv5137564, essv5101361, essv5131537, essv5151965, essv5058604, essv5103290, essv5152180, essv5106478, essv5116557, essv5016734, essv5055615, essv5129412, essv5102813, essv5156482, essv5029641, essv5009899, essv5142947, essv5131604, essv5139096, essv5009941, essv5008836, essv5020999, essv5030424, essv5058472, essv5075599, essv5036262, essv5160218, essv5018792, essv5143405, essv5156947, essv5090252, essv5125418, essv5144485, essv5016022, essv5049641, essv5143701, essv5160003, essv5035629, essv5160020, essv5135532, essv5065574, essv5041361, essv5153391, essv5156385, essv5083707, essv5086612, essv5037018, essv5137087, essv5146149, essv5140237, essv5038937, essv5086562, essv5160284, essv5029527, essv5090879, essv5155544, essv5087078, essv5028980, essv5030749, essv5010002
SamplesNA18642, NA18166, NA20771, NA18594, NA21524, NA20859, NA18561, NA18117, NA18966, NA17990, NA18550, NA18124, NA18948, NA18529, NA18947, NA19010, NA18134, NA20909, NA20894, NA18702, NA20805, NA18109, NA20845, NA18156, NA18965, NA18682, NA18557, NA18745, NA20853, NA18943, NA18628, NA18139, NA17993, NA18559, NA17986, NA19067, NA19085, NA20885, NA18627, NA20849, NA19652, NA18566, NA19068, NA18960, NA18990, NA18118, NA18991, NA19066, NA18959, NA18609, NA18138, NA18643, NA18970, NA18144, NA18149, NA21143, NA18135, NA18645, NA21525, NA17966, NA18572, NA18132, NA19657, NA18106, NA18151, NA19002, NA18558, NA19708, NA18102, NA18564, NA18942, NA19001, NA17996, NA17987, NA18579, NA20879, NA18945, NA20858, NA18999, NA18995, NA18631, NA18577, NA18146, NA18147, NA18614, NA18548, NA21436, NA18610, NA11829, NA21105, NA18112, NA18615, NA17965, NA19007, NA17974
Known GenesJAK1
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
Pubmed ID20811451
Accession Number(s)esv2421783
Sample Size1184
Observed Gain0
Observed Loss95
Observed Complex0

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