A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746655



Internal ID10327625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128657826..128658302hg38UCSC Ensembl
Outerchr12:129142371..129142847hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959405, essv6862494, essv6755641, essv6673283, essv6977360, essv6702538, essv6779542, essv6866510, essv6842515, essv6772122, essv6916206, essv6698816, essv6936226, essv6965915, essv6773019, essv6908970, essv6857340, essv6846016, essv6851334, essv6803568
SamplesSSM008, SSM027, SSM011, SSM065, SSM087, SSM038, SSM039, SSM073, SSM088, SSM058, SSM084, SSM021, SSM029, SSM026, SSM031, SSM067, SSM014, SSM086, SSM085, SSM016
Known GenesTMEM132C
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)esv2746655
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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