A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749034



Internal ID10330004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:93721702..93722957hg38UCSC Ensembl
Outerchr14:94188048..94189303hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381256
hg191256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828026, essv6695894, essv6673680, essv6792175, essv6867545, essv6820077, essv6812446, essv6977806, essv6691870, essv6870957, essv6744241, essv6836976, essv6959811, essv6735384, essv6851705
SamplesSSM036, SSM090, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078, SSM053, SSM080, SSM037, SSM076, SSM010, SSM070, SSM049
Known GenesPRIMA1
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)esv2749034
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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