A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924335



Internal ID9687024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13024469..13025241hg38UCSC Ensembl
Outerchr12:13177403..13178175hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745570, esv2745567
Supporting Variants
SamplesSSM018
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)essv6924335
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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