A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5456314



Internal ID8433717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141177668..141213756hg38UCSC Ensembl
chr5:140557249..140593328hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3836089
hg1936080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664767
Supporting Variants
SamplesHG00362
Known GenesPCDHB10, PCDHB11, PCDHB12, PCDHB16, PCDHB8, PCDHB9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5456314
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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