A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670818



Internal ID9936923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101822807..101824021hg38UCSC Ensembl
chr1:102288363..102289577hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5963901, essv5713035, essv5570145, essv5417099, essv6181685, essv6504006, essv6146001, essv5636548
SamplesNA20819, NA11932, HG00178, HG00188, HG00149, HG01383, NA20799, NA20509
Known GenesOLFM3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670818
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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