A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746321



Internal ID10327291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:105287189..105287832hg38UCSC Ensembl
Outerchr12:105680967..105681610hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867248, essv6768544, essv6732186, essv6806209, essv6977303, essv6741121, essv6949148, essv6888046, essv6897703, essv6673249
SamplesSSM024, SSM064, SSM009, SSM047, SSM029, SSM096, SSM089, SSM031, SSM099, SSM052
Known Genes
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)esv2746321
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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