A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5754435



Internal ID8893831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56470194..56470917hg38UCSC Ensembl
chr12:56863978..56864701hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667114
Supporting Variants
SamplesHG00343
Known GenesSPRYD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5754435
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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