A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745588



Internal ID9979872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14814437..14816923hg38UCSC Ensembl
Outerchr12:14967371..14969857hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382487
hg192487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702446
SamplesSSM039
Known GenesC12orf60
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)esv2745588
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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