A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718952



Internal ID10302588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55097385..55097932hg38UCSC Ensembl
Outerchr19:55608753..55609300hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv540e201
Supporting Variantsessv6892134, essv6824720, essv6888829, essv6917200, essv6874919, essv6666563, essv6710385, essv6816373, essv6961094, essv6941498, essv6729373, essv6843625
SamplesSSM046, SSM011, SSM079, SSM097, SSM041, SSM084, SSM029, SSM096, SSM026, SSM016, SSM077, SSM022
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)esv2718952
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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