A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672411



Internal ID9591830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44168836..44170042hg38UCSC Ensembl
Outerchr22:44168465..44170412hg38UCSC Ensembl
Innerchr22:44564716..44565922hg19UCSC Ensembl
Outerchr22:44564345..44566292hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381948
hg191948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5709035, essv5484820, essv6503901, essv5467548, essv6443277, essv5944306, essv5567695, essv5892480, essv6438226, essv6126021, essv6445261, essv6350937, essv6528283, essv5869714, essv6176522, essv6032730, essv5856983, essv6563468, essv6291261, essv6548011, essv6367781, essv5925378, essv5852515, essv6332430
SamplesNA18870, NA19248, NA19152, NA18861, NA18501, NA18511, NA19144, NA19147, NA18912, NA18508, NA19197, NA19153, NA18486, NA18510, NA18504, NA19131, NA18910, NA18909, NA19116, NA19099, NA18924, NA19130, NA18853, NA19204
Known GenesPARVB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672411
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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