A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5548591



Internal ID9657475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124203854..124210616hg38UCSC Ensembl
chr5:123539547..123546309hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386763
hg196763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661772
Supporting Variants
SamplesNA19390
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5548591
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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