A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722905



Internal ID10306541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63334999..63335605hg38UCSC Ensembl
Outerchr20:61966351..61966957hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773057, essv6832207, essv6960886, essv6843433, essv6967338, essv6950093, essv6925260, essv6696589, essv6784575, essv6713856, essv6971845, essv6733098, essv6816240, essv6913593, essv6932889, essv6946056, essv6905777, essv6846646, essv6682477, essv6858648, essv6954278, essv6877372
SamplesSSM027, SSM024, SSM065, SSM087, SSM013, SSM042, SSM023, SSM028, SSM092, SSM084, SSM047, SSM018, SSM026, SSM033, SSM085, SSM068, SSM081, SSM020, SSM015, SSM037, SSM077, SSM025
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)esv2722905
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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