A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722939



Internal ID10306575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63559467..63559781hg38UCSC Ensembl
Outerchr20:62190820..62191134hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv679e201
Supporting Variantsessv6729235, essv6950097, essv6892028, essv6666320, essv6682480, essv6696592, essv6852712, essv6832209, essv6706964, essv6780565, essv6824572, essv6689011, essv6895486, essv6941369, essv6871404, essv6885706, essv6780422, essv6971849, essv6863507, essv6721630, essv6892029, essv6909737, essv6776612, essv6824573, essv6888714, essv6792863, essv6841187, essv6835781, essv6828639, essv6733101, essv6801228
SamplesSSM008, SSM024, SSM046, SSM079, SSM097, SSM088, SSM028, SSM090, SSM047, SSM029, SSM096, SSM035, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM081, SSM040, SSM072, SSM082, SSM080, SSM037, SSM022, SSM010, SSM070, SSM095, SSM098
Known GenesHELZ2
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)esv2722939
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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