A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670365



Internal ID9936470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178841020..178841232hg38UCSC Ensembl
chr5:178268021..178268233hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5737119, essv5749873, essv5438678, essv5872176, essv5962512, essv5823044
SamplesNA18861, HG01389, NA20517, HG01492, HG00236, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670365
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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