A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851370



Internal ID9903029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132315247..132315309hg38UCSC Ensembl
Outerchr12:132891833..132891895hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746953
Supporting Variants
SamplesSSM086
Known GenesGALNT9
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)essv6851370
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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