A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722820



Internal ID10306456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62654970..62655816hg38UCSC Ensembl
Outerchr20:61286322..61287168hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38847
hg19847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967328, essv6937195, essv6682468, essv6780499, essv6769207, essv6717752, essv6725431, essv6921219, essv6913587, essv6858638, essv6780413, essv6843422, essv6954263, essv6776598, essv6960875, essv6773039, essv6666306, essv6761610
SamplesSSM008, SSM027, SSM045, SSM064, SSM065, SSM087, SSM084, SSM021, SSM061, SSM029, SSM026, SSM017, SSM067, SSM033, SSM066, SSM015, SSM025, SSM043
Known GenesSLCO4A1
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)esv2722820
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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