A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659264



Internal ID9925369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:98941446..98943168hg38UCSC Ensembl
Outerchr6:98941289..98943341hg38UCSC Ensembl
Innerchr6:99389322..99391044hg19UCSC Ensembl
Outerchr6:99389165..99391217hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg382053
hg192053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6012780, essv5798563, essv5902295, essv5815668
SamplesNA18621, NA18868, NA18593, NA18909
Known GenesFBXL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659264
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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