A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5480714



Internal ID8778423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157570860..157571086hg38UCSC Ensembl
chr1:157540650..157540876hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662006
Supporting Variants
SamplesHG00180
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5480714
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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