A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746845



Internal ID10327815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131366981..131367588hg38UCSC Ensembl
Outerchr12:131851526..131852133hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867286, essv6894740, essv6867288, essv6673312, essv6800322, essv6728428, essv6691691, essv6949186, essv6965948
SamplesSSM036, SSM027, SSM024, SSM046, SSM089, SSM031, SSM072, SSM098
Known GenesLOC338797
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)esv2746845
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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