A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5977344



Internal ID8954747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53901974..53904057hg38UCSC Ensembl
chr1:54367647..54369730hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382084
hg192084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664536
Supporting Variants
SamplesNA19834
Known GenesDIO1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5977344
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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