A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746843



Internal ID10327813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131364098..131364271hg38UCSC Ensembl
Outerchr12:131848643..131848816hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959432, essv6838708, essv6931949, essv6673311, essv6949184
SamplesSSM083, SSM024, SSM026, SSM031, SSM020
Known GenesLOC338797
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)esv2746843
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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