A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669183



Internal ID9588602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:83873037..83879119hg38UCSC Ensembl
Outerchr6:83873000..83879169hg38UCSC Ensembl
Innerchr6:84582756..84588838hg19UCSC Ensembl
Outerchr6:84582719..84588888hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg386170
hg196170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5464065
SamplesHG00343
Known GenesCYB5R4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669183
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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