A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674016



Internal ID9940121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:10217368..10219974hg38UCSC Ensembl
Outerchr20:10216797..10220344hg38UCSC Ensembl
Innerchr20:10198016..10200622hg19UCSC Ensembl
Outerchr20:10197445..10200992hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5706511, essv5717568, essv5829952, essv6053651, essv6044822, essv6572134, essv5747387, essv6032169, essv5478862, essv5586616, essv5457239, essv6305689, essv5858082, essv5751140, essv5743058, essv5740482, essv6493986, essv6095894, essv6253256, essv5772370, essv6153144, essv6154587, essv6523443, essv6280515, essv6173369, essv5799020, essv5917901, essv5421636, essv6090723, essv6250386, essv6233466, essv6063534, essv5834371, essv6338673, essv5433233, essv5561820, essv6535560, essv5773056, essv6139877, essv6362830, essv6290632, essv5960454, essv6500208, essv5808920, essv5764737, essv6167073, essv6269395, essv5838953, essv5968440, essv6101365, essv6305652, essv5662525, essv5663699, essv6215905, essv5403159, essv6429614, essv6056212, essv5894710, essv5938025, essv5923247, essv6471295, essv5697454, essv5580616, essv5900965, essv6013852, essv6561197, essv5444141, essv5631938, essv5867502, essv5489388, essv5988287, essv5448579, essv5989230, essv5591449, essv6345129, essv5706795, essv6431088, essv5483124, essv6231747, essv6032893, essv6456365, essv5701292, essv6216569, essv6195678, essv5715733, essv5955010, essv6163245, essv5712807, essv6523622, essv5982391, essv5951441, essv5886680, essv5837493, essv5717157, essv6504243, essv6580464, essv6589932, essv6062559, essv6114071, essv5950752, essv6063953, essv5448092, essv6539388, essv5814286, essv6597221, essv6398933, essv5562025, essv6255332, essv5718474, essv6248172, essv5993318, essv6386502, essv5694674, essv6428145, essv6098294, essv5780839, essv5698676, essv5726530, essv5779918, essv6402315, essv6205781, essv5486387, essv5837458
SamplesNA19394, HG00114, HG00231, NA19397, HG00249, NA19466, NA19399, NA19332, HG00100, HG00257, NA19350, NA19359, HG00103, NA19393, NA19377, HG00115, HG00150, NA19443, HG00261, NA19446, NA19374, NA19396, HG00138, HG00127, NA19381, NA19373, NA19379, NA19382, NA19448, NA19313, HG00247, NA19384, HG00243, HG00158, NA19404, HG00139, HG00120, NA19383, HG00106, HG00236, HG00156, HG00262, HG00232, NA19372, NA19385, NA19471, HG00160, HG00118, HG00159, NA19456, NA19445, HG00253, NA19451, HG00264, HG00108, HG00260, HG00137, HG00133, HG00154, HG00149, NA19437, HG00245, NA19462, NA19347, NA19455, HG00263, HG00239, NA19461, HG00250, NA19449, NA19453, HG00117, HG00157, HG00140, HG01334, NA19338, HG00152, NA19452, NA19469, HG00246, NA19395, HG00126, NA19436, NA19401, NA19375, HG00258, HG00124, HG00155, NA19440, HG00254, HG00119, NA19434, NA19473, HG00136, NA19435, NA19444, NA19380, NA19334, HG00237, NA19470, NA19428, NA19311, NA19467, HG00116, NA19360, HG00256, HG00125, NA19398, HG00111, HG00259, NA19438, NA19472, NA19468, NA19474, HG00123, HG00131, HG00252, NA19430, NA19312, NA19463, NA19429, NA19346, NA19431
Known GenesSNAP25, SNAP25-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674016
Frequency
Sample Size1151
Observed Gain0
Observed Loss123
Observed Complex0
Frequencyn/a


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