A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718296



Internal ID9952587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19809998..20220450hg38UCSC Ensembl
Outerchr19:19920807..20331259hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38410453
hg19410453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814155, essv6835858, essv6932938, essv6756317, essv6858738, essv6781243, essv6841487, essv6960979, essv6764001, essv6666419, essv6905821, essv6937308, essv6914529, essv6716809, essv6788803, essv6781254, essv6729310, essv6902222, essv6804203, essv6773115, essv6858739, essv6693898, essv6812938, essv6738606, essv6880210, essv6883055, essv6946108, essv6812936, essv6902223, essv6696688, essv6905817, essv6901370, essv6812937, essv6858737, essv6693887, essv6703529, essv6750368, essv6764002, essv6753281, essv6735805, essv6756316, essv6666418, essv6716821, essv6839643, essv6843515, essv6885759, essv6780821, essv6780482
SamplesSSM010, SSM065, SSM013, SSM082, SSM006, SSM084, SSM020, SSM057, SSM001, SSM039, SSM067, SSM094, SSM083, SSM050, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM009, SSM029, SSM095, SSM073, SSM069, SSM021, SSM002, SSM037, SSM087, SSM046, SSM023, SSM026, SSM049, SSM008, SSM076, SSM058
Known GenesZNF253, ZNF486, ZNF506, ZNF682, ZNF90, ZNF93
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)esv2718296
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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