A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667528



Internal ID9933633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:246450..249976hg38UCSC Ensembl
chr16:296449..299975hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383527
hg193527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5572000, essv6218137, essv5518200, essv5641174, essv6157548, essv6550713, essv5755559, essv6514417, essv5500042
SamplesNA19374, NA19457, NA19371, NA19347, NA19439, NA19470, NA19818, NA19312, NA20322
Known GenesITFG3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667528
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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