A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746790



Internal ID10327760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130781489..130783795hg38UCSC Ensembl
Outerchr12:131266034..131268340hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382307
hg192307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673305, essv6959425, essv6779553, essv6862502, essv6815548, essv6772139, essv6977380, essv6739231, essv6796124, essv6851356, essv6800316, essv6724588, essv6894731, essv6931945, essv6888068, essv6681669, essv6702550, essv6965938, essv6831391, essv6970912, essv6936244, essv6744097, essv6709587, essv6838705, essv6706299, essv6900706, essv6716890, essv6823720, essv6720778, essv6953326, essv6677914, essv6908972
SamplesSSM100, SSM083, SSM071, SSM027, SSM045, SSM079, SSM065, SSM039, SSM088, SSM041, SSM028, SSM021, SSM029, SSM096, SSM026, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM081, SSM040, SSM072, SSM020, SSM007, SSM053, SSM077, SSM025, SSM043, SSM098
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)esv2746790
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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