A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746492



Internal ID9980776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121747146..121748040hg38UCSC Ensembl
Outerchr12:122185052..122185946hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38895
hg19895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6728402, essv6851315, essv6970882
SamplesSSM086, SSM028, SSM046
Known GenesTMEM120B
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)esv2746492
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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