A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669648



Internal ID9935753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33644054..33672967hg38UCSC Ensembl
chr8:33501572..33530485hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3828914
hg1928914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6403993, essv6544431, essv5998474
SamplesNA19782, HG00734, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669648
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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