A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12475489



Internal ID5325398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:98941246..98943219hg38UCSC Ensembl
Innerchr6:98941246..98943219hg38UCSC Ensembl
Outerchr6:98941058..98943431hg38UCSC Ensembl
chr6:99389122..99391095hg19UCSC Ensembl
Innerchr6:99389122..99391095hg19UCSC Ensembl
Outerchr6:99388934..99391307hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg381974
hg191974
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610114
Supporting Variants
SamplesNA18868
Known GenesFBXL4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12475489
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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