A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715996



Internal ID10299632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47157104..47158165hg38UCSC Ensembl
Outerchr17:45234470..45235531hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv422e201
Supporting Variantsessv6960453, essv6750132, essv6820472, essv6717512, essv6763817, essv6944619, essv6772779, essv6954000, essv6738371, essv6692187, essv6966936, essv6936942, essv6916791, essv6913322, essv6747313, essv6852296, essv6901948, essv6928521, essv6691787, essv6776359, essv6920955, essv6744482, essv6756073, essv6976940, essv6715176, essv6713619, essv6778188, essv6769038, essv6732851, essv6858272, essv6811521, essv6971578, essv6858273, essv6960452, essv6665846, essv6753050, essv6682230, essv6941096, essv6843186, essv6912752, essv6909517, essv6932632, essv6743665
SamplesSSM036, SSM008, SSM027, SSM064, SSM065, SSM087, SSM009, SSM050, SSM042, SSM002, SSM057, SSM058, SSM028, SSM084, SSM021, SSM047, SSM029, SSM062, SSM026, SSM017, SSM019, SSM003, SSM014, SSM086, SSM033, SSM066, SSM006, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM022, SSM055, SSM025, SSM004, SSM043, SSM056, SSM012
Known GenesCDC27
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)esv2715996
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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