A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661308



Internal ID9927413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46074085..46075926hg38UCSC Ensembl
chr7:46113683..46115524hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381842
hg191842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6454367, essv6128353, essv6120727, essv6101686, essv6547659, essv5590916, essv6396864, essv6258486, essv5953099, essv6378342, essv6534809, essv6167925, essv6491839, essv6180380, essv6140685, essv5483746, essv5620016, essv5842859, essv6560484, essv5905740, essv6098951, essv5577063, essv5417676, essv5913492, essv6428693, essv5668230, essv5462653, essv6326873, essv6054750, essv6445951, essv6383264, essv6437556, essv5976081, essv6144105, essv5442968, essv6592198, essv6530840, essv5626512, essv5516834, essv6073488, essv5944219, essv5878503, essv5859006, essv6016509, essv6258217, essv5481001, essv6529024, essv5744045, essv6081179, essv5720692, essv6346670, essv6222554, essv5398570, essv6373584, essv5551808, essv6544931, essv6124428, essv5687457, essv6333604, essv6079774, essv5919251, essv6279421, essv6231289, essv6473317, essv5829832, essv5549873, essv6416612, essv5748466, essv5553585, essv5507768, essv5868471, essv6158190, essv6201584, essv5965745, essv5688795, essv5853670, essv5833401
SamplesNA18502, NA19701, HG00650, NA19058, NA18917, HG00566, NA18959, NA19443, NA18944, NA18597, NA18489, NA20589, HG00702, NA19054, HG00270, NA19681, NA20336, NA19904, NA20291, NA18949, NA19235, NA19385, HG00422, NA18986, NA19002, HG01133, NA19209, HG00323, NA18867, NA11831, NA12777, NA18538, NA20787, NA12342, HG00701, NA19236, HG00556, NA18579, NA20344, NA18537, NA18566, NA19461, NA19114, HG00146, HG00141, NA18945, HG01075, NA19012, NA19436, NA18576, NA19321, NA18961, NA19147, NA18517, NA19712, NA12775, HG01253, NA19311, NA19818, HG00578, NA18631, HG00656, NA20334, NA18636, NA19116, NA18983, HG00472, NA18989, NA19004, NA19312, NA12890, NA07000, NA18522, NA18622, HG00581, NA20772, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661308
Frequency
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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