A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6806458



Internal ID9862312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132259796..132260203hg38UCSC Ensembl
Outerchr12:132836335..132836789hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38408
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746933
Supporting Variants
SamplesSSM074
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)essv6806458
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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