A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748784



Internal ID9983068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64671083..64671287hg38UCSC Ensembl
Outerchr14:65137801..65138005hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6796315, essv6779731, essv6945266, essv6873887, essv6747062
SamplesSSM071, SSM023, SSM067, SSM091, SSM055
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)esv2748784
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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