A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659934



Internal ID9579353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84396340..84398196hg38UCSC Ensembl
chr16:84429946..84431802hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381857
hg191857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6570664, essv6136576, essv5848925, essv6171259, essv6100408, essv6220162, essv5896322, essv6055357, essv5473342, essv5956300
SamplesNA19312, NA19445, HG01052, NA19437, NA19467, NA19438, NA20340, NA19377, NA19380, NA19318
Known GenesATP2C2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659934
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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