A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746857



Internal ID10327827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131392517..131393008hg38UCSC Ensembl
Outerchr12:131877062..131877553hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6752646, essv6970920, essv6838713
SamplesSSM083, SSM057, SSM028
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)esv2746857
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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