A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746223



Internal ID10327193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93554536..93554715hg38UCSC Ensembl
Outerchr12:93948312..93948491hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803549, essv6728381
SamplesSSM046, SSM073
Known Genes
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)esv2746223
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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