A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2673994

Internal ID9593413
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138081484..138087573hg38UCSC Ensembl
chr9:140975936..140982025hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5559204, essv5645885, essv6140683, essv6483930, essv5761397, essv5495263, essv6137706, essv5428676, essv5937959, essv6480081, essv6117617, essv6474275, essv6493323, essv5603122, essv6189552, essv5773890, essv5478068, essv6219422, essv6205262, essv6178582, essv5589836, essv5550177, essv5711524, essv6000964, essv6549238, essv6094420, essv6390164, essv6578862, essv5798308, essv5669433, essv5851388, essv6025130, essv6052838, essv6163428, essv5823275, essv5423055, essv5923113, essv6015761, essv5669266, essv6036501, essv6561224, essv6472714, essv6258740, essv6314166, essv6206985, essv6236547, essv6087947, essv6127842, essv6287711, essv6396613, essv6492601, essv5878537, essv6117797, essv5524151, essv6282090, essv5631511, essv6307331, essv5432234, essv5985955, essv6467194, essv5972174, essv5934828, essv5981150, essv6417938, essv6574867, essv5635709, essv5920432, essv5614952, essv5584835, essv5475132, essv6226765, essv6329850, essv6476538, essv5484223, essv5538622, essv6289300, essv5999372
SamplesHG00613, NA19436, NA18595, NA18535, HG00418, NA12286, NA19819, NA18523, HG00437, HG00500, HG00596, NA19311, HG00449, NA19060, NA19455, NA18545, NA18603, HG00428, NA19010, NA18541, HG00701, HG00557, HG00699, NA19467, NA18873, NA18950, NA18628, HG00583, NA18635, NA12155, NA19443, NA19107, NA19444, HG00692, HG00689, NA18959, HG00533, HG00419, NA19056, HG00403, NA19082, HG00662, NA19190, NA19377, NA19080, NA19372, NA18633, NA19703, NA19002, NA18977, HG00672, NA19704, NA18487, NA18613, HG00513, NA18988, NA19711, NA19235, NA18582, NA18597, NA18983, NA19394, NA18565, NA18577, HG00654, HG00530, NA18548, NA19064, NA18571, NA19470, HG00442, NA19473, HG00626, NA18615, HG00476, NA19007, NA18980
Known GenesCACNA1B
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2673994
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0

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