A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747262



Internal ID10328232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:35864262..35864617hg38UCSC Ensembl
Outerchr13:36438399..36438754hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779589, essv6959503, essv6791989, essv6936295, essv6966024, essv6681715, essv6905031, essv6775829, essv6787891, essv6909009, essv6812318, essv6724631, essv6900729, essv6765853
SamplesSSM100, SSM027, SSM045, SSM013, SSM021, SSM069, SSM026, SSM067, SSM014, SSM033, SSM066, SSM076, SSM070, SSM063
Known GenesDCLK1, MIR548F5
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)esv2747262
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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