A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5625425



Internal ID8962066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40851461..40851642hg38UCSC Ensembl
chr5:40851563..40851744hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2673909
Supporting Variants
SamplesHG00531
Known GenesCARD6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5625425
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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