A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746379



Internal ID9980663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113299688..113300350hg38UCSC Ensembl
Outerchr12:113737493..113738155hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965876, essv6739043, essv6716859, essv6831366, essv6741127, essv6953290, essv6876720, essv6834947, essv6965877, essv6931911, essv6803558, essv6775766, essv6899944, essv6920254, essv6691669, essv6772775, essv6916186, essv6772105
SamplesSSM036, SSM008, SSM027, SSM065, SSM073, SSM092, SSM017, SSM066, SSM081, SSM082, SSM020, SSM007, SSM016, SSM025, SSM043, SSM052, SSM012
Known GenesSLC8B1
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)esv2746379
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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