A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5447936



Internal ID8862543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:46856428..46858191hg38UCSC Ensembl
chr8:47768050..47769813hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg381764
hg191764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657675
Supporting Variants
SamplesHG00318
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5447936
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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