A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746858



Internal ID10327828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131392544..131393317hg38UCSC Ensembl
Outerchr12:131877089..131877862hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891363, essv6949188, essv6796132, essv6838714, essv6885147, essv6806732, essv6838713, essv6744103
SamplesSSM083, SSM071, SSM024, SSM097, SSM009, SSM053, SSM095
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)esv2746858
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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