A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749100



Internal ID10330070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99520106..99521077hg38UCSC Ensembl
Outerchr14:99986443..99987414hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38972
hg19972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755815, essv6749907, essv6741357, essv6752789, essv6768744, essv6876913, essv6936482, essv6775992, essv6977820, essv6901624, essv6779760, essv6738121, essv6820080, essv6761189, essv6763572, essv6851717, essv6772383, essv6735390, essv6747088
SamplesSSM064, SSM065, SSM050, SSM057, SSM058, SSM092, SSM021, SSM061, SSM029, SSM062, SSM067, SSM086, SSM066, SSM078, SSM055, SSM052, SSM049, SSM056, SSM012
Known GenesCCDC85C
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)esv2749100
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer