A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5413100



Internal ID8390503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129611566..129612496hg38UCSC Ensembl
chr9:132373845..132374775hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669087
Supporting Variants
SamplesNA19985
Known GenesC9orf50, NTMT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5413100
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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