A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746884



Internal ID10327854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131626682..131627757hg38UCSC Ensembl
Outerchr12:132111227..132112302hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720783, essv6949190, essv6709593, essv6936256, essv6940446, essv6959435, essv6681675, essv6928011, essv6728709, essv6706306, essv6744104
SamplesSSM024, SSM041, SSM021, SSM026, SSM019, SSM044, SSM001, SSM033, SSM040, SSM053, SSM022
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)esv2746884
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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