A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749065



Internal ID10330035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96708569..96709233hg38UCSC Ensembl
Outerchr14:97174906..97175570hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38665
hg19665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788086, essv6932188, essv6720997, essv6966309, essv6673684, essv6945299, essv6971172, essv6775991, essv6941551, essv6744244, essv6815725, essv6713260, essv6800555, essv6838908, essv6792178, essv6953560, essv6678135, essv6772379, essv6724782, essv6928188
SamplesSSM083, SSM027, SSM045, SSM065, SSM042, SSM023, SSM028, SSM069, SSM019, SSM032, SSM003, SSM031, SSM044, SSM066, SSM072, SSM020, SSM053, SSM077, SSM070, SSM025
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)esv2749065
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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