A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723673



Internal ID9957973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44539494..44550904hg38UCSC Ensembl
Outerchr21:45959377..45970787hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3811411
hg1911411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780773, essv6921647, essv6813113, essv6863863, essv6793205, essv6789048, essv6733434, essv6950459, essv6750555, essv6773366, essv6718082, essv6868667, essv6871666, essv6682775, essv6916251, essv6954617, essv6807326, essv6839886, essv6753452, essv6898558, essv6885934, essv6843823, essv6810296, essv6679075, essv6816265, essv6883207, essv6710524, essv6892249, essv6797362, essv6876186, essv6888949, essv6967823, essv6832508, essv6784905, essv6742095
SamplesSSM065, SSM027, SSM033, SSM084, SSM099, SSM043, SSM088, SSM089, SSM090, SSM025, SSM071, SSM057, SSM032, SSM024, SSM067, SSM094, SSM083, SSM097, SSM041, SSM056, SSM017, SSM009, SSM011, SSM095, SSM047, SSM069, SSM002, SSM096, SSM052, SSM068, SSM074, SSM075, SSM076, SSM081, SSM070
Known GenesKRTAP10-1, KRTAP10-2, TSPEAR
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)esv2723673
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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