A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722468



Internal ID9956767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47848907..48503141hg38UCSC Ensembl
Outerchr20:46477651..47131387hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38654235
hg19653737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895461, essv6967284, essv6868266, essv6971802, essv6780392, essv6756228, essv6874335, essv6835753, essv6696555, essv6780393, essv6685826, essv6846628, essv6706940, essv6784545, essv6784544, essv6747470, essv6685825, essv6816219, essv6954231, essv6895460, essv6717726, essv6839533, essv6729201, essv6666260, essv6885678, essv6733056, essv6813377, essv6863467, essv6960823, essv6898284, essv6721596, essv6909716, essv6925228, essv6810061, essv6666258, essv6954232, essv6932856, essv6729202, essv6941325, essv6696553, essv6665822, essv6773004, essv6666259, essv6898283, essv6804160, essv6916984, essv6696552, essv6678749, essv6801206, essv6685824, essv6792829
SamplesSSM065, SSM022, SSM027, SSM082, SSM055, SSM091, SSM099, SSM040, SSM043, SSM088, SSM089, SSM025, SSM072, SSM020, SSM016, SSM032, SSM067, SSM083, SSM077, SSM085, SSM009, SSM028, SSM029, SSM095, SSM047, SSM073, SSM037, SSM034, SSM046, SSM068, SSM044, SSM004, SSM075, SSM026, SSM014, SSM098, SSM018, SSM058, SSM070
Known GenesLINC00494
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)esv2722468
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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