A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5407563



Internal ID8384966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94996845..94998159hg38UCSC Ensembl
chr5:94332549..94333863hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677476
Supporting Variants
SamplesHG00328
Known GenesMCTP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5407563
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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