A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746513



Internal ID9980797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123907900..123908411hg38UCSC Ensembl
Outerchr12:124392447..124392958hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732200, essv6894717, essv6673261, essv6706279, essv6823700, essv6949161
SamplesSSM024, SSM079, SSM047, SSM031, SSM040, SSM098
Known GenesDNAH10
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)esv2746513
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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