A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658153



Internal ID9924258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3884957..3887231hg38UCSC Ensembl
chr6:3885191..3887465hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382275
hg192275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5546984, essv6462739, essv5489561, essv5481714
SamplesNA19704, NA19470, NA19467, HG01108
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658153
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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