A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722970



Internal ID9957270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63770531..63771241hg38UCSC Ensembl
Outerchr20:62401884..62402594hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38711
hg19711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913600, essv6780587, essv6874365, essv6780424, essv6678781, essv6797045, essv6883000, essv6960893, essv6674678, essv6666132, essv6898310, essv6792867, essv6813665, essv6877379, essv6685853, essv6801230, essv6699367, essv6689014, essv6902177, essv6921237, essv6839563, essv6733104, essv6892031, essv6858660, essv6880159, essv6666326, essv6914274, essv6761618, essv6692394, essv6710295, essv6696594, essv6717767, essv6741843, essv6753247, essv6871406, essv6967345, essv6971853, essv6769218, essv6810083, essv6706968, essv6905780, essv6835785, essv6901319, essv6895491, essv6950099, essv6863513, essv6804184, essv6843435, essv6841209, essv6824575, essv6941371, essv6832212, essv6932893, essv6721634, essv6852716, essv6937211, essv6828644, essv6745565, essv6738547, essv6925267, essv6682483, essv6868307, essv6917027, essv6703471, essv6946863, essv6725446, essv6946062, essv6846650, essv6954285, essv6928737, essv6885710, essv6729238, essv6750337, essv6747497
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM088, SSM002, SSM041, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM085, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM080, SSM037, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, SSM012
Known GenesZBTB46
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)esv2722970
Frequency
Sample Size96
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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