A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717920



Internal ID9952211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2939059..2939308hg38UCSC Ensembl
Outerchr19:2939057..2939306hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801268, essv6858675, essv6852734, essv6960920, essv6828684, essv6914351, essv6871443, essv6895526, essv6685886, essv6824616, essv6678830, essv6788774, essv6835827, essv6873964, essv6674733, essv6901353, essv6925311, essv6967403, essv6733123, essv6941379, essv6863545, essv6880191, essv6820817, essv6812913, essv6689023
SamplesSSM100, SSM027, SSM011, SSM079, SSM087, SSM093, SSM088, SSM002, SSM090, SSM047, SSM018, SSM069, SSM026, SSM035, SSM032, SSM031, SSM086, SSM072, SSM082, SSM078, SSM080, SSM076, SSM022, SSM034, SSM098
Known GenesZNF77
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)esv2717920
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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