A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977312



Internal ID10080889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109194412..109194539hg38UCSC Ensembl
Outerchr12:109632217..109632344hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746348
Supporting Variants
SamplesSSM029
Known GenesACACB
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)essv6977312
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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