A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6454211



Internal ID9431614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62013487..62014914hg38UCSC Ensembl
chr1:62479159..62480586hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381428
hg191428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659941
Supporting Variants
SamplesHG00513
Known GenesINADL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6454211
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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