A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719010



Internal ID9953302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56098236..56099138hg38UCSC Ensembl
Outerchr19:56609605..56610507hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38903
hg19903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761712, essv6714002, essv6888834, essv6733259, essv6828789, essv6846789, essv6858857, essv6843630, essv6863694, essv6801389, essv6773194, essv6933042, essv6902306, essv6972008, essv6784717, essv6961109, essv6717665, essv6666571, essv6780589, essv6692528, essv6820953, essv6788890, essv6725582, essv6776721, essv6753351, essv6925437, essv6852879, essv6747626, essv6913744, essv6948263, essv6797192, essv6883113, essv6746776, essv6877502, essv6696766, essv6729381
SamplesSSM036, SSM071, SSM045, SSM046, SSM065, SSM087, SSM042, SSM088, SSM057, SSM028, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM094, SSM003, SSM067, SSM086, SSM066, SSM006, SSM085, SSM068, SSM072, SSM020, SSM007, SSM015, SSM078, SSM080, SSM037, SSM055, SSM012
Known GenesZNF787
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)esv2719010
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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