A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5636940



Internal ID8614343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120494746..120497452hg38UCSC Ensembl
chr9:123257024..123259730hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382707
hg192707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663480
Supporting Variants
SamplesHG01048
Known GenesCDK5RAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5636940
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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