A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv736e199



Internal ID22758509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:141565676..141571323hg38UCSC Ensembl
chr2:142323245..142328892hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg385648
hg195648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677787, esv2658084, esv2675363
SamplesNA11830, HG00249, NA11995, HG00361, HG00257, HG00315, HG00233, HG00181, NA12399, NA12341, NA12813, NA07346, HG00138, HG00270, HG00185, HG00158, NA12761, NA12282, HG00325, HG00262, HG00118, HG00253, HG00264, NA12748, NA10847, NA12777, NA12489, HG00282, HG00190, HG00273, NA12829, NA06989, HG00141, NA12546, HG00124, HG00265, NA12775, NA12272, HG00237, HG00269, HG00111, NA12749, HG00174, NA11892, NA07000
Known GenesLRP1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv736e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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