A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664603



Internal ID9930708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13808143..13811821hg38UCSC Ensembl
chr6:13808375..13812053hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg383679
hg193679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5517970
SamplesNA19347
Known GenesMCUR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664603
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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