A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745579



Internal ID10326549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14001855..14002702hg38UCSC Ensembl
Outerchr12:14154789..14155636hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38848
hg19848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760967, essv6737884, essv6927931, essv6904912, essv6912592, essv6899277, essv6744022, essv6749677, essv6681567, essv6970798, essv6977160, essv6851161, essv6732128, essv6944943, essv6768502, essv6953220, essv6887996, essv6791850, essv6775696, essv6827689, essv6876660, essv6936119, essv6758222, essv6771976, essv6765762, essv6752562, essv6724492, essv6722265, essv6920180, essv6800212, essv6735181
SamplesSSM059, SSM008, SSM045, SSM064, SSM013, SSM050, SSM057, SSM023, SSM028, SSM092, SSM021, SSM047, SSM061, SSM029, SSM096, SSM017, SSM019, SSM001, SSM086, SSM033, SSM066, SSM072, SSM015, SSM053, SSM080, SSM070, SSM025, SSM049, SSM056, SSM063, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745579
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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