A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671363



Internal ID9937468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38340634..38341950hg38UCSC Ensembl
chr22:38736639..38737955hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381317
hg191317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv831e199
Supporting Variantsessv5975385, essv5969057, essv6245933, essv6241765, essv5848979, essv5857303, essv5780554, essv6211563, essv6099296, essv5649357, essv6329447, essv5525188, essv5960999
SamplesNA19204, NA19131, NA19137, NA19238, NA19152, NA18516, NA18981, NA18858, NA18909, NA19240, NA19144, NA19093, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671363
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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