A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722643



Internal ID10306279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:60087146..60088035hg38UCSC Ensembl
Outerchr20:58662201..58663090hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967304, essv6921197, essv6928721, essv6816228, essv6766284, essv6937183, essv6868282, essv6750319, essv6839541, essv6706948, essv6888702, essv6693399, essv6925239, essv6824550, essv6713836, essv6954244, essv6932869, essv6735767, essv6716443, essv6852677, essv6846636, essv6769200, essv6843404, essv6792840, essv6710274, essv6820754, essv6797016, essv6699351, essv6744641, essv6665955, essv6946607, essv6756238, essv6685835, essv6753227, essv6747480, essv6880143, essv6812871, essv6682451, essv6882979, essv6858613, essv6745388, essv6885685, essv6902147, essv6868281, essv6733071, essv6776585, essv6971814, essv6892014, essv6877359, essv6960845, essv6729211
SamplesSSM083, SSM071, SSM027, SSM046, SSM064, SSM079, SSM087, SSM038, SSM097, SSM093, SSM042, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM096, SSM026, SSM089, SSM017, SSM019, SSM094, SSM003, SSM086, SSM033, SSM066, SSM006, SSM085, SSM040, SSM020, SSM007, SSM078, SSM053, SSM005, SSM077, SSM076, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM049, SSM056, SSM063, SSM012
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)esv2722643
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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