A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718949



Internal ID10302585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55097113..55097932hg38UCSC Ensembl
Outerchr19:55608481..55609300hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733252, essv6892134, essv6824720, essv6801380, essv6888829, essv6682617, essv6917200, essv6874919, essv6913737, essv6703603, essv6666563, essv6782410, essv6954434, essv6972000, essv6710385, essv6816373, essv6961094, essv6941498, essv6729373, essv6843625
SamplesSSM008, SSM046, SSM011, SSM079, SSM097, SSM039, SSM041, SSM028, SSM084, SSM047, SSM029, SSM096, SSM026, SSM033, SSM072, SSM015, SSM016, SSM077, SSM022, SSM025
Known GenesPPP1R12C
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)esv2718949
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