A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673994



Internal ID9593413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138081484..138087573hg38UCSC Ensembl
chr9:140975936..140982025hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg386090
hg196090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6476538, essv5475132, essv6140683, essv5432234, essv5669433, essv6226765, essv5645885, essv5773890, essv6087947, essv6219422, essv5478068, essv5584835, essv6314166, essv5878537, essv5635709, essv5798308, essv6287711, essv6480081, essv5428676, essv6137706, essv5603122, essv6127842, essv5972174, essv5920432, essv5851388, essv6472714, essv5981150, essv6052838, essv6206985, essv5669266, essv6492601, essv5524151, essv6178582, essv6205262, essv5495263, essv6307331, essv6396613, essv5761397, essv6417938, essv6467194, essv5614952, essv6117617, essv6561224, essv6189552, essv6578862, essv6574867, essv5484223, essv6258740, essv6390164, essv5423055, essv6236547, essv5559204, essv5550177, essv6282090, essv5711524, essv6289300, essv6474275, essv6163428, essv6036501, essv6329850, essv5631511, essv6117797, essv6025130, essv5823275, essv6549238, essv5985955, essv5934828, essv6094420, essv5937959, essv6000964, essv5538622, essv5923113, essv5999372, essv5589836, essv6015761, essv6483930, essv6493323
SamplesHG00626, HG00403, NA19394, HG00442, NA19703, NA12286, NA18565, NA18980, NA19704, NA18603, HG00699, NA18545, NA19819, NA19377, NA18959, HG00449, HG00654, NA19443, NA19190, NA18633, NA12155, NA18988, NA19107, NA18597, NA18595, HG00689, NA18635, NA18582, NA18571, NA18977, NA19372, NA19235, NA19002, HG00530, HG00419, NA19007, NA18613, NA19082, NA19056, HG00596, HG00557, HG00428, HG00701, NA19455, HG00533, HG00583, HG00500, HG00692, NA19064, NA18548, HG00613, NA18523, NA18541, NA19436, HG00476, NA18535, NA19473, NA18628, NA18950, NA19444, NA19010, NA19470, NA19311, NA19467, HG00662, HG00418, NA18615, HG00672, HG00513, NA19060, NA18873, NA19080, NA19711, NA18983, NA18487, HG00437, NA18577
Known GenesCACNA1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673994
Frequency
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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