A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5400920



Internal ID8378324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178686892..178687445hg38UCSC Ensembl
chr3:178404680..178405233hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666875
Supporting Variants
SamplesHG00319
Known GenesKCNMB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5400920
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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