A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5816712



Internal ID9117129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166411646..166494002hg38UCSC Ensembl
chr1:166380883..166463239hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3882357
hg1982357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677974
Supporting Variants
SamplesHG01125
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5816712
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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