A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749035



Internal ID10330005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:93722074..93722335hg38UCSC Ensembl
Outerchr14:94188420..94188681hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38262
hg19262
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, essv6691870, essv6870957, essv6836976, essv6959811, essv6735384, essv6851705
SamplesSSM036, SSM090, SSM026, SSM089, SSM031, SSM086, SSM078, 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)esv2749035
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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