A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2745689

Internal ID9979973
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29783644..30170243hg38UCSC Ensembl
Outerchr12:29936577..30323176hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6879495, essv6772050, essv6908695, essv6716799, essv6834885, essv6851180, essv6977186, essv6851181, essv6687464, essv6712993, essv6720685, essv6791856, essv6939118, essv6912605, essv6977185, essv6949098, essv6827699, essv6779461, essv6735189, essv6815466, essv6768507, essv6867159, essv6805754, essv6862383, essv6819690, essv6970805, essv6812220, essv6772031, essv6971396, essv6806389, essv6912604, essv6749683, essv6845951, essv6876664, essv6924350, essv6706219, essv6899365, essv6920188, essv6772049, essv6876666, essv6834932, essv6916127, essv6752568, essv6862382, essv6775706, essv6796030, essv6712992, essv6758232, essv6831310, essv6763401, essv6959265
SamplesSSM010, SSM065, SSM092, SSM082, SSM086, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM064, SSM071, SSM016, SSM057, SSM024, SSM067, SSM077, SSM062, SSM005, SSM012, SSM093, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM002, SSM044, SSM074, SSM004, SSM015, SSM026, SSM049, SSM008, SSM018, SSM076, SSM059, SSM081, SSM070, SSM080
Known GenesTMTC1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2745689
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0

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