A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718947



Internal ID10302583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55096693..55097916hg38UCSC Ensembl
Outerchr19:55608061..55609284hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381224
hg191224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780580, essv6733252, essv6921456, essv6892134, essv6824720, essv6801380, essv6888829, essv6682617, essv6917200, essv6874919, essv6913737, essv6703603, essv6666563, essv6782410, essv6666562, essv6954434, essv6972000, essv6710385, essv6816373, essv6961093, essv6961094, essv6820948, essv6941498, essv6967566, essv6729373, essv6824719
SamplesSSM008, SSM027, SSM046, SSM011, SSM079, SSM097, SSM039, SSM041, SSM028, SSM047, SSM029, SSM096, SSM026, SSM017, SSM067, SSM033, SSM072, SSM015, SSM078, 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)esv2718947
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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