A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5895946



Internal ID8873349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40397763..40401106hg38UCSC Ensembl
chr6:40365502..40368845hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383344
hg193344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678163
Supporting Variants
SamplesHG00346
Known GenesLRFN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5895946
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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