A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965959



Internal ID9723538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132303582..132303837hg38UCSC Ensembl
Outerchr12:132880168..132880423hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746949, esv2746948, esv2746947
Supporting Variants
SamplesSSM027
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)essv6965959
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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