A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746793



Internal ID10327763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130781663..130782684hg38UCSC Ensembl
Outerchr12:131266208..131267229hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv212e201
Supporting Variantsessv6959425, essv6862502, essv6815548, essv6851356, essv6724588, essv6965938, essv6838705, essv6823720, essv6953326, essv6677914, essv6908972
SamplesSSM083, SSM027, SSM045, SSM079, SSM088, SSM026, SSM032, SSM014, SSM086, SSM077, SSM025
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)esv2746793
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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