A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677909



Internal ID9944014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6893110..6894320hg38UCSC Ensembl
chr4:6894837..6896047hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381211
hg191211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv920e199
Supporting Variantsessv6173379, essv5682164, essv5530329, essv6575916, essv6553595, essv6151934
SamplesHG01354, HG00247, HG00369, HG00253, NA12878, NA12892
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677909
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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