A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747011



Internal ID9981295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132556482..132557062hg38UCSC Ensembl
Outerchr12:133133068..133133648hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv220e201
Supporting Variantsessv6772167, essv6713096, essv6920319, essv6728435, essv6779563, essv6931958
SamplesSSM046, SSM065, SSM042, SSM017, SSM067, SSM020
Known GenesFBRSL1
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)esv2747011
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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