A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745689



Internal ID9979973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29783644..30170243hg38UCSC Ensembl
Outerchr12:29936577..30323176hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38386600
hg19386600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912605, essv6791856, essv6939118, essv6970805, essv6912604, essv6831310, essv6920188, essv6720685, essv6796030, essv6706219, essv6959265, essv6716799, essv6879495, essv6867159, essv6712993, essv6916127, essv6845951, essv6876666, essv6851181, essv6949098, essv6876664, essv6712992, essv6977185, essv6772031, essv6735189, essv6827699, essv6899365, essv6819690, essv6687464, essv6971396, essv6834885, essv6763401, essv6977186, essv6758232, essv6772049, essv6768507, essv6749683, essv6779461, essv6806389, essv6815466, essv6851180, essv6862383, essv6752568, essv6812220, essv6775706, essv6805754, essv6862382, essv6834932, essv6908695, essv6924350, essv6772050
SamplesSSM059, SSM008, SSM071, SSM024, SSM064, SSM065, SSM009, SSM093, SSM074, SSM042, SSM088, SSM002, SSM057, SSM028, SSM092, SSM018, SSM029, SSM062, SSM026, SSM089, SSM017, SSM003, SSM067, SSM044, SSM086, SSM066, SSM085, SSM081, SSM040, SSM082, SSM015, SSM078, SSM016, SSM005, SSM080, SSM077, SSM076, SSM010, SSM070, SSM004, SSM043, SSM049, SSM056, SSM012
Known GenesTMTC1
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)esv2745689
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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