A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745928



Internal ID10326898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56487062..56487124hg38UCSC Ensembl
Outerchr12:56880846..56880908hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851219
SamplesSSM086
Known GenesGLS2
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)esv2745928
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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