A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676630



Internal ID9596049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:173448..177259hg38UCSC Ensembl
chr16:223447..227258hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383812
hg193812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6159819, essv6498403, essv5536480, essv6435097, essv6111953, essv5600299, essv5972136, essv5646057, essv5677417, essv6336336, essv5862826
SamplesNA18947, NA18504, NA19190, NA19138, NA19137, NA19238, NA18520, NA19152, NA18909, NA19102, NA18511
Known GenesHBA1, HBA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676630
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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