A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657248



Internal ID9576667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:105363312..105363614hg38UCSC Ensembl
chr9:108125593..108125895hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5772070, essv5613544
SamplesNA19712, NA18973
Known GenesSLC44A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657248
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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