A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722941



Internal ID10306577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63559476..63559719hg38UCSC Ensembl
Outerchr20:62190829..62191072hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv679e201
Supporting Variantsessv6892028, essv6852712, essv6824572, essv6909737, essv6776612
SamplesSSM079, SSM097, SSM014, SSM086, SSM066
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)esv2722941
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer