A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728403



Internal ID9792358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122525811..122526109hg38UCSC Ensembl
Outerchr12:123010358..123010656hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746498
Supporting Variants
SamplesSSM046
Known GenesRSRC2
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)essv6728403
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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