A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722688



Internal ID10306324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61272995..61273784hg38UCSC Ensembl
Outerchr20:59848051..59848840hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967311, essv6733075, essv6797025, essv6710279, essv6773024, essv6928724, essv6843406, essv6682455, essv6937186, essv6913573, essv6921201, essv6717744, essv6674647
SamplesSSM071, SSM027, SSM065, SSM041, SSM084, SSM021, SSM047, SSM017, SSM019, SSM031, SSM033, SSM015, SSM043
Known GenesCDH4
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)esv2722688
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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