A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669111



Internal ID9935216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30340446..30343833hg38UCSC Ensembl
Outerchr16:30340287..30343986hg38UCSC Ensembl
Innerchr16:30351767..30355154hg19UCSC Ensembl
Outerchr16:30351608..30355307hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5552894, essv5605523, essv6288772
SamplesHG00176, HG00328, HG00580
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669111
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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