A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5444502



Internal ID9675411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124267726..124267994hg38UCSC Ensembl
chr8:125279967..125280235hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2664854
Supporting Variants
SamplesNA19404
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5444502
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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