A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746849



Internal ID10327819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131382288..131383248hg38UCSC Ensembl
Outerchr12:131866833..131867793hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38961
hg19961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv214e201
Supporting Variantsessv6681673, essv6936252, essv6698825, essv6796130, essv6775800, essv6783659, essv6732228, essv6695659, essv6796129, essv6965950, essv6773198, essv6800323, essv6806456, essv6970919, essv6838711, essv6965949, essv6772147, essv6741163, essv6842533, essv6791947, essv6732229, essv6791948, essv6668262, essv6953330, essv6819817, essv6904997, essv6862505, essv6713085, essv6783658, essv6711721, essv6838712, essv6752645, essv6842532, essv6857360, essv6949187, essv6953332
SamplesSSM008, SSM083, SSM071, SSM027, SSM024, SSM065, SSM087, SSM038, SSM013, SSM074, SSM042, SSM088, SSM057, SSM028, SSM084, SSM021, SSM047, SSM033, SSM066, SSM006, SSM068, SSM072, SSM078, SSM037, SSM070, SSM025, SSM052, SSM030
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)esv2746849
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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