A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5971847



Internal ID9388311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:5692447..5706689hg38UCSC Ensembl
Outerchr6:5692410..5706739hg38UCSC Ensembl
Innerchr6:5692680..5706922hg19UCSC Ensembl
Outerchr6:5692643..5706972hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3814330
hg1914330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677547
Supporting Variants
SamplesNA18582
Known GenesFARS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5971847
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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