A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659399



Internal ID9578818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1629636..1632643hg38UCSC Ensembl
Outerchr1:1629265..1633013hg38UCSC Ensembl
Innerchr1:1565016..1568022hg19UCSC Ensembl
Outerchr1:1564645..1568392hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383749
hg193748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5840257, essv5564875, essv6052102, essv6122711, essv5505835, essv6176711, essv5640105, essv5576454, essv5480951, essv6416354, essv5909662, essv6445131, essv5437332, essv5826361, essv5788822, essv5552407, essv6451693, essv6594591, essv6489895, essv6210050, essv5447705, essv6130371, essv6445395, essv5825844, essv6547669, essv6344659, essv6506220, essv5973783, essv6365130, essv6540194, essv5777807, essv6421253, essv6077960, essv6062074, essv6051974, essv5847408, essv5430682, essv6584669, essv5597251, essv6014074, essv5447867, essv5645061, essv5792798, essv5676911, essv6498815, essv5475895, essv5555449, essv6373554, essv5932031, essv6019147, essv5751221, essv5456241, essv6162221, essv6398734, essv5501015, essv6334883, essv5799184, essv6468550, essv5910205, essv6068528, essv6214922, essv6198417, essv6057704, essv5750344, essv5971515, essv5938443, essv5764969, essv5967186, essv6403318, essv6256437, essv5903313, essv6543940, essv6316185, essv6182143, essv5659326, essv6271528, essv5412961, essv5679080, essv5792291, essv5838204, essv5608365, essv5484770, essv5975899, essv5555203, essv6594060, essv6363277, essv5992909, essv5922663, essv6335420, essv5607117, essv5966500, essv6392787, essv5730259, essv6527817, essv5975812, essv5970937, essv6583165, essv6130105, essv5792913, essv6043598, essv5789042, essv6299341, essv5906768, essv6171576, essv6210581, essv5603576, essv5563905, essv6105270, essv6175240, essv5947235, essv5502383, essv5845711, essv5770643, essv5744271, essv5556717, essv6216510, essv6057050, essv6008653, essv6498962, essv6483495, essv5814571, essv5504308, essv5994453, essv6531938, essv5438654, essv6325181, essv6261648, essv5844422, essv5917107, essv6185128
SamplesHG00189, HG00114, HG00231, HG00249, HG00361, HG00242, HG00187, HG00257, HG00315, HG00233, HG00367, HG00318, HG00244, HG00181, HG00177, HG00150, HG00261, HG00337, HG00327, HG00271, HG00138, HG00272, HG00251, HG00122, HG00330, HG00346, HG00247, HG00270, HG00334, HG00185, HG00243, HG00158, HG00281, HG00139, HG00277, HG00120, HG00335, HG00148, HG00106, HG00236, HG00156, HG00325, HG00262, HG00232, HG00309, HG00182, HG00160, HG00118, HG00338, HG00159, HG00326, HG00178, HG00323, HG00253, HG00264, HG00108, HG00260, HG00313, HG00137, HG00154, HG00149, HG00268, HG00266, HG00183, HG00176, HG00282, HG00245, HG00190, HG00368, HG00320, HG00344, HG00263, HG00275, HG00239, HG00324, HG00284, HG00273, HG00250, HG00331, HG00117, HG00321, HG00157, HG00140, HG01334, HG00276, HG00152, HG00146, HG00246, HG00126, HG00258, HG00124, HG00155, HG00254, HG00119, HG00336, HG00285, HG00265, HG00366, HG00353, HG00375, HG00357, HG00136, HG00278, HG00237, HG00319, HG00116, HG00256, HG00339, HG00269, HG00125, HG00111, HG00312, HG00259, HG00329, HG00342, HG00267, HG00174, HG00123, HG00310, HG00186, HG00280, HG00131, HG00343, HG00377, HG00372, HG00274, HG00252, HG00171, HG00345, HG00180
Known GenesMIB2, MMP23A, MMP23B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659399
Frequency
Sample Size1151
Observed Gain0
Observed Loss130
Observed Complex0
Frequencyn/a


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