A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658285



Internal ID9577704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109919665..109920392hg38UCSC Ensembl
chr1:110462287..110463014hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6198724, essv6162213, essv5656227, essv5396021, essv5733657, essv5718986
SamplesHG00100, NA20506, HG00125, HG00282, NA20534, NA20513
Known GenesCSF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658285
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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