A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664089



Internal ID9930194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4719902..4722319hg38UCSC Ensembl
chr16:4769903..4772320hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382418
hg192418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6055408, essv6013437, essv6387719, essv5741667, essv5895306, essv6044029, essv5936302, essv5937642, essv6440428, essv6388497, essv6236478, essv5682216, essv5607924, essv5891143, essv6546904, essv5807108, essv6504092, essv5760499, essv6384158, essv6332740, essv6165311, essv5725457, essv6058316, essv6227646, essv5443474, essv6588139, essv6007124
SamplesHG00361, NA18980, HG00177, HG00122, NA20756, HG00330, HG00369, NA12282, HG00106, HG01133, NA20533, NA20818, NA11831, HG00313, HG00154, HG01073, HG00258, HG00124, HG00119, HG00285, HG00136, HG00638, HG01108, NA19783, NA06986, HG00274, NA07056
Known GenesANKS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664089
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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