A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677742



Internal ID9943847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1440686..1444892hg38UCSC Ensembl
Outerchr11:1440315..1445262hg38UCSC Ensembl
Innerchr11:1461916..1466122hg19UCSC Ensembl
Outerchr11:1461545..1466492hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384948
hg194948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5736055, essv6187736, essv5748593, essv5794401, essv6212244, essv6503709, essv5523873, essv6409769, essv5807254, essv6342250, essv5992973, essv5960374, essv6129738, essv6238265, essv5556198, essv6075342, essv6292145, essv6244449, essv5624795, essv6449423, essv6485525, essv5708159, essv6014729, essv5529914, essv5609682, essv5642166, essv6091633, essv5554012, essv5635167, essv5850989, essv6067506, essv5533016, essv5772027, essv6224209, essv6397925
SamplesHG01060, HG01173, HG01052, HG01079, HG01188, HG00640, HG00737, HG01051, HG00641, HG01070, HG01167, HG01083, HG01069, HG01170, HG01072, HG01198, HG01183, HG01187, HG01171, HG01095, HG00740, HG01047, HG01102, HG01073, HG01182, HG01101, HG01107, HG01204, HG00734, HG01174, HG01108, HG01082, HG00554, HG01191, HG01061
Known GenesBRSK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677742
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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