A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5427178



Internal ID8404581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42628209..42630888hg38UCSC Ensembl
chr5:42628311..42630990hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382680
hg192680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662205
Supporting Variants
SamplesHG00275
Known GenesGHR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5427178
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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