A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6709545



Internal ID10121333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93501015..93501706hg38UCSC Ensembl
Outerchr12:93894791..93895482hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38692
hg19692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746217
Supporting Variants
SamplesSSM041
Known GenesMRPL42
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)essv6709545
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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