A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5453470



Internal ID9304695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39100787..39105122hg38UCSC Ensembl
chr6:39068563..39072898hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384336
hg194336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674697
Supporting Variants
SamplesNA18487
Known GenesSAYSD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5453470
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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