A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675363



Internal ID9941468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141567347..141570853hg38UCSC Ensembl
Outerchr2:141566976..141571223hg38UCSC Ensembl
Innerchr2:142324916..142328422hg19UCSC Ensembl
Outerchr2:142324545..142328792hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv736e199
Supporting Variantsessv6113448, essv5436203, essv6485087, essv5821903, essv6413842, essv6182769, essv6358161, essv6253772, essv5775770, essv6448219, essv5685211
SamplesHG00361, HG00315, HG00181, HG00270, HG00185, HG00325, HG00282, HG00190, HG00273, HG00269, HG00174
Known GenesLRP1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675363
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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