A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745817



Internal ID9980101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:42097754..42105869hg38UCSC Ensembl
Outerchr12:42491556..42499671hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg388116
hg198116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763408
SamplesSSM062
Known GenesGXYLT1
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)esv2745817
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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