A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593980



Internal ID6981302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201508936..201510340hg38UCSC Ensembl
Innerchr2:201508938..201510339hg38UCSC Ensembl
Outerchr2:201508935..201510342hg38UCSC Ensembl
chr2:202373659..202375063hg19UCSC Ensembl
Innerchr2:202373661..202375062hg19UCSC Ensembl
Outerchr2:202373658..202375065hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381405
hg191405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10823084, essv10823117, essv10823088, essv10823116, essv10823105, essv10823125, essv10823043, essv10823150, essv10823151, essv10823107, essv10823104, essv10823057, essv10823096, essv10823122, essv10823083, essv10823106, essv10823119, essv10823059, essv10823130, essv10823127, essv10823103, essv10823158, essv10823113, essv10823075, essv10823109, essv10823165, essv10823095, essv10823047, essv10823101, essv10823168, essv10823137, essv10823144, essv10823123, essv10823087, essv10823108, essv10823133, essv10823135, essv10823080, essv10823161, essv10823145, essv10823126, essv10823114, essv10823078, essv10823111, essv10823134, essv10823089, essv10823156, essv10823062, essv10823136, essv10823131, essv10823066, essv10823110, essv10823143, essv10823055, essv10823164, essv10823094, essv10823138, essv10823152, essv10823085, essv10823092, essv10823052, essv10823072, essv10823160, essv10823051, essv10823159, essv10823140, essv10823061, essv10823162, essv10823118, essv10823074, essv10823064, essv10823056, essv10823071, essv10823050, essv10823141, essv10823060, essv10823121, essv10823099, essv10823124, essv10823054, essv10823065, essv10823067, essv10823129, essv10823112, essv10823063, essv10823120, essv10823093, essv10823091, essv10823081, essv10823155, essv10823045, essv10823148, essv10823139, essv10823132, essv10823157, essv10823128, essv10823166, essv10823053, essv10823167, essv10823073, essv10823048, essv10823102, essv10823100, essv10823076, essv10823154, essv10823146, essv10823044, essv10823068, essv10823086, essv10823163, essv10823147, essv10823046, essv10823082, essv10823077, essv10823149, essv10823079, essv10823070, essv10823058, essv10823142, essv10823153, essv10823090, essv10823049, essv10823098, essv10823069, essv10823115, essv10823097
SamplesHG03514, HG02614, HG03559, NA19222, HG03121, NA19397, HG02481, HG03548, NA19399, NA19332, HG03111, HG02318, HG03241, NA19020, HG03130, HG03298, HG03280, HG03190, NA19393, HG02888, NA19190, NA19098, NA18510, HG03095, HG03074, HG02811, HG03452, HG03499, HG02595, HG03485, HG02860, NA18916, HG02054, NA19138, HG03479, HG02922, HG02111, NA19130, HG02281, NA19404, HG03209, HG02561, NA18874, NA19917, NA19137, HG02461, NA20340, NA19024, NA19235, NA19172, NA19471, HG02588, HG01440, NA19159, HG03352, HG02571, HG03225, HG02946, NA19456, NA18867, HG03343, HG02943, HG02977, HG02820, HG03160, HG02334, NA19152, NA18933, HG02511, NA19455, NA19043, HG02322, HG03457, NA19982, HG02144, HG03428, HG02887, NA20126, HG02968, HG01880, HG03311, HG03123, HG03472, NA18856, NA18853, HG03046, NA18858, HG02484, HG02772, NA19401, NA19149, HG03367, HG02546, HG01915, NA19435, HG01272, HG02923, NA18865, HG03259, HG03433, NA19428, HG03304, HG02464, NA20281, HG03419, NA19475, NA19143, HG01912, HG02938, HG02053, HG02107, NA20289, NA19185, HG02768, HG02013, NA19213, NA19900, HG03445, HG03162, HG02947, NA19129, NA19146, HG03072, HG02284, HG02643, HG02343
Known GenesALS2CR11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593980
Frequency
Sample Size2504
Observed Gain0
Observed Loss126
Observed Complex0
Frequencyn/a


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