A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662450



Internal ID9928555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219558844..219559100hg38UCSC Ensembl
Outerchr2:219558473..219559470hg38UCSC Ensembl
Innerchr2:220423566..220423822hg19UCSC Ensembl
Outerchr2:220423195..220424192hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6031621, essv5593482, essv5765300, essv6115002, essv5782601, essv5590750, essv5578776, essv6347650, essv6547197, essv6259359, essv5658040, essv6315040, essv6213354, essv6241165, essv5974212, essv6153277, essv5649412, essv6280565, essv6249808, essv5913459, essv5663985, essv6497237, essv5433549, essv5892479, essv6446293, essv5572522, essv5804165, essv6572436, essv6564826, essv6195048, essv5795283, essv6212779, essv6488971, essv5510781, essv5803543, essv5449164, essv6017186, essv5654335, essv6575903, essv6108964, essv5407183, essv5721471, essv5944222, essv5894046
SamplesHG00114, HG00143, HG00231, HG00249, HG00242, HG00100, HG00257, HG00244, HG00150, HG00261, HG00247, HG00243, HG00158, HG00139, HG00236, HG00156, HG00232, HG00160, HG00118, HG00253, HG00108, HG00260, HG00137, HG00133, HG00154, HG00263, HG00239, HG00250, HG00140, HG01334, HG00152, HG00146, HG00141, HG00246, HG00126, HG00258, HG00254, HG00136, HG00237, HG00256, HG00111, HG00259, HG00131, HG00252
Known GenesOBSL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662450
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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