A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5753538



Internal ID8730941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47147305..47148864hg38UCSC Ensembl
chr19:47650562..47652121hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2659430
Supporting Variants
SamplesNA07347
Known GenesSAE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5753538
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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