A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736936



Internal ID10320572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42332776..42336894hg38UCSC Ensembl
Outerchr8:42190294..42194412hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384119
hg194119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919521, essv6818929, essv6931146, essv6876203, essv6752100, essv6944189, essv6964728, essv6870273, essv6931145, essv6771443, essv6667904, essv6904608, essv6800833, essv6927389, essv6762994, essv6716161, essv6952577, essv6966384, essv6765404, essv6681003, essv6841844, essv6760519, essv6915609, essv6811772, essv6787094, essv6755041, essv6740522, essv6845464, essv6935405, essv6737432, essv6975950, essv6911960, essv6805908, essv6766377, essv6757828, essv6830542, essv6944190, essv6733621, essv6734786, essv6775140, essv6749219, essv6707464, essv6683221, essv6933852
SamplesSSM059, SSM008, SSM027, SSM065, SSM009, SSM050, SSM074, SSM002, SSM057, SSM023, SSM058, SSM092, SSM084, SSM090, SSM021, SSM069, SSM061, SSM029, SSM062, SSM017, SSM019, SSM003, SSM033, SSM066, SSM006, SSM085, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM076, SSM010, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063
Known Genes
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)esv2736936
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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