A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5632518



Internal ID9521886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40982040..40985442hg38UCSC Ensembl
chr5:40982142..40985544hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383403
hg193403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676304
Supporting Variants
SamplesNA19009
Known GenesC7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5632518
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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