A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723678



Internal ID9957978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44732969..44733743hg38UCSC Ensembl
Outerchr21:46152884..46153658hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766496, essv6668858, essv6961400, essv6853128, essv6921649, essv6859100, essv6729540, essv6909981, essv6868668, essv6764134, essv6846917, essv6913925, essv6917350, essv6793206, essv6692682, essv6675127, essv6784020, essv6967824, essv6780774, essv6725760, essv6721918, essv6950460, essv6776848, essv6756507, essv6784906, essv6666845, essv6773367, essv6682777, essv6718083, essv6863865, essv6925620
SamplesSSM036, SSM008, SSM027, SSM024, SSM045, SSM046, SSM065, SSM087, SSM088, SSM058, SSM018, SSM029, SSM062, SSM026, SSM089, SSM017, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM015, SSM016, SSM070, SSM043, SSM030, SSM063
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)esv2723678
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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