A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5764416



Internal ID8741819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12231868..12393054hg38UCSC Ensembl
chr10:12273867..12435053hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38161187
hg19161187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676569
Supporting Variants
SamplesHG00313
Known GenesCAMK1D, CDC123
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5764416
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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