A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670565



Internal ID9936670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36270290..36271870hg38UCSC Ensembl
chr21:37642588..37644168hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg381581
hg191581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6188998, essv5819855, essv6106398, essv6319240, essv6355485, essv6168170, essv5635479, essv6236664
SamplesNA19138, NA19385, NA18912, NA19256, NA19472, NA19093, NA19900, NA18487
Known GenesDOPEY2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670565
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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