A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873680



Internal ID9923109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13024502..13025238hg38UCSC Ensembl
Outerchr12:13177436..13178172hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38737
hg19737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745570, esv2745567
Supporting Variants
SamplesSSM091
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)essv6873680
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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