A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718460



Internal ID9952751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:32539218..32539673hg38UCSC Ensembl
Outerchr19:33030124..33030579hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954367, essv6725507, essv6773138, essv6946137, essv6950193, essv6971943, essv6780506, essv6776681, essv6801322, essv6682560, essv6797126, essv6696703, essv6874442, essv6792933, essv6925361, essv6703550, essv6721690, essv6807151, essv6941439, essv6824663, essv6839660, essv6828728, essv6678879
SamplesSSM083, SSM071, SSM024, SSM045, SSM011, SSM079, SSM065, SSM039, SSM074, SSM023, SSM028, SSM018, SSM032, SSM067, SSM044, SSM033, SSM066, SSM072, SSM080, SSM037, SSM022, 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)esv2718460
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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