A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2659399

Internal ID9578818
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1629636..1632643hg38UCSC Ensembl
Outerchr1:1629265..1633013hg38UCSC Ensembl
Innerchr1:1565016..1568022hg19UCSC Ensembl
Outerchr1:1564645..1568392hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6210581, essv5847408, essv6527817, essv5437332, essv6077960, essv6175240, essv5966500, essv5505835, essv6176711, essv5814571, essv6363277, essv5676911, essv6445395, essv5845711, essv5947235, essv5751221, essv6398734, essv6506220, essv5770643, essv6584669, essv5799184, essv5412961, essv5447705, essv5438654, essv5555203, essv6122711, essv5501015, essv5645061, essv5922663, essv5504308, essv5789042, essv6344659, essv5971515, essv6105270, essv6198417, essv5973783, essv6299341, essv5792798, essv5608365, essv5792913, essv5932031, essv6051974, essv5603576, essv5640105, essv5777807, essv5475895, essv5563905, essv6062074, essv5975899, essv6416354, essv6019147, essv6057704, essv5838204, essv6373554, essv6445131, essv6468550, essv5792291, essv5750344, essv5659326, essv5967186, essv6334883, essv5484770, essv5679080, essv5430682, essv5825844, essv6216510, essv6583165, essv6008653, essv5906768, essv6256437, essv5447867, essv6543940, essv5826361, essv5576454, essv6130105, essv5909662, essv6057050, essv5552407, essv6316185, essv5597251, essv6130371, essv6325181, essv6421253, essv6594060, essv6451693, essv5502383, essv5730259, essv5994453, essv6052102, essv6531938, essv5555449, essv6185128, essv5903313, essv5607117, essv5564875, essv6483495, essv6171576, essv6043598, essv5970937, essv6547669, essv6335420, essv5788822, essv6162221, essv6392787, essv5992909, essv6261648, essv5844422, essv6489895, essv6365130, essv6068528, essv5975812, essv5764969, essv5917107, essv6498815, essv6540194, essv6214922, essv5556717, essv6594591, essv6271528, essv6498962, essv5938443, essv5910205, essv5480951, essv6182143, essv5744271, essv6014074, essv6210050, essv5840257, essv5456241, essv6403318
SamplesHG00323, HG00309, HG00157, HG00313, HG00152, HG00252, HG00318, HG00257, HG00182, HG00344, HG00171, HG00274, HG00186, HG00245, HG00131, HG00155, HG00160, HG00310, HG00261, HG00117, HG00189, HG00375, HG00368, HG00326, HG00148, HG00270, HG00139, HG00190, HG00122, HG00106, HG00111, HG00334, HG00187, HG00280, HG00335, HG00366, HG00177, HG00331, HG00146, HG00319, HG00253, HG00156, HG00353, HG00247, HG00269, HG00256, HG00342, HG00244, HG00266, HG00154, HG00321, HG00339, HG00158, HG00242, HG00346, HG00250, HG00337, HG00140, HG00180, HG00259, HG00231, HG00372, HG00315, HG00330, HG00149, HG00338, HG00150, HG00178, HG00125, HG00258, HG00264, HG00174, HG00243, HG00254, HG00276, HG00284, HG00357, HG00237, HG00343, HG00114, HG00159, HG00267, HG00124, HG00108, HG00233, HG00268, HG00325, HG00185, HG00263, HG00176, HG00260, HG00239, HG00265, HG00273, HG00282, HG00232, HG00249, HG00116, HG00277, HG00329, HG00246, HG00377, HG00236, HG00120, HG00181, HG01334, HG00138, HG00262, HG00118, HG00123, HG00281, HG00285, HG00367, HG00251, HG00119, HG00320, HG00275, HG00324, HG00183, HG00137, HG00336, HG00272, HG00345, HG00271, HG00278, HG00136, HG00126, HG00312, HG00327, HG00361
Known GenesMIB2, MMP23A, MMP23B
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2659399
Sample Size1151
Observed Gain0
Observed Loss130
Observed Complex0

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