A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746869



Internal ID10327839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131574389..131575016hg38UCSC Ensembl
Outerchr12:132058934..132059561hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38628
hg19628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800324, essv6959434, essv6924447, essv6965952, essv6724591, essv6970921, essv6851363, essv6695661, essv6936254, essv6900243, essv6713087, essv6702557, essv6681674, essv6931952, essv6940444
SamplesSSM027, SSM045, SSM039, SSM042, SSM028, SSM021, SSM018, SSM026, SSM086, SSM033, SSM072, SSM020, SSM037, SSM022, SSM012
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)esv2746869
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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