A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673045



Internal ID9592464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168754628..168755993hg38UCSC Ensembl
chr4:169675779..169677144hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381366
hg191366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6569411, essv5732167
SamplesHG00443, NA18574
Known GenesPALLD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673045
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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