A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5676129



Internal ID9564317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154423027..154427456hg38UCSC Ensembl
chr5:153802587..153807016hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg384430
hg194430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667405
Supporting Variants
SamplesNA19108
Known GenesSAP30L-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5676129
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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