A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670207



Internal ID9589626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11008725..11123187hg38UCSC Ensembl
Innerchr12:11161324..11275786hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38114463
hg19114463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5632620, essv5799436, essv5874339, essv6122648, essv6514797, essv6427474, essv6110181, essv5893969, essv6518319, essv5852796, essv5962196, essv5973596, essv6002440, essv6042791, essv5679680, essv6435208, essv6509786, essv6202169, essv6588555, essv6586721, essv5818814, essv6166011, essv6118876, essv5557162, essv6356277, essv5535498, essv6432426, essv6084860, essv5760105, essv5859362, essv6373976, essv6176954, essv5801813, essv5622970, essv6202764, essv5573966, essv6552256, essv6261536, essv6494877, essv6051716, essv6077045, essv5923795, essv6084182, essv6047405, essv5407740, essv5512623, essv6328724, essv6579208, essv5643646, essv5912373, essv6167830, essv5856481, essv5401013, essv6336806, essv6568510, essv6054005, essv6460782, essv5711964, essv6583321, essv5570958, essv6517364, essv5918448, essv6235244, essv6546574, essv5435946, essv5449588, essv5545522, essv6352142, essv5454631, essv5721299, essv5619680, essv5769608, essv6171643, essv5420711, essv5576508, essv5809823, essv6365953, essv5493538, essv6384839, essv5867044, essv5865778, essv6488652, essv5401033, essv5559862
SamplesNA12717, NA11830, NA18947, NA11829, NA10851, NA18980, NA18561, NA11920, NA11931, NA18603, NA12045, NA12751, NA18545, NA12004, NA18959, NA19190, NA18526, NA18510, NA12750, NA12155, NA07357, NA07346, NA18563, NA18944, NA18940, NA18519, NA18558, NA18960, NA18942, NA11992, NA18582, NA18571, NA18964, NA18949, NA12761, NA12005, NA11994, NA19172, NA18973, NA18638, NA11831, NA10847, NA18605, NA12489, NA12003, NA18956, NA18579, NA18572, NA18948, NA18907, NA18537, NA18566, NA11919, NA18856, NA12249, NA18912, NA19257, NA18555, NA12144, NA18570, NA18858, NA18593, NA18945, NA18608, NA18953, NA18542, NA18909, NA19108, NA18961, NA18564, NA07051, NA18943, NA07037, NA12763, NA06986, NA18501, NA19093, NA18609, NA19129, NA12006, NA07000, NA18522, NA12154, NA18577
Known GenesPRH1-PRR4, TAS2R19, TAS2R31, TAS2R43, TAS2R46
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670207
Frequency
Sample Size1151
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


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