A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648072



Internal ID7034809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49779902..49780564hg38UCSC Ensembl
Innerchr22:49779913..49780554hg38UCSC Ensembl
Outerchr22:49779892..49780575hg38UCSC Ensembl
chr22:50173550..50174212hg19UCSC Ensembl
Innerchr22:50173561..50174202hg19UCSC Ensembl
Outerchr22:50173540..50174223hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16457791, essv16457792, essv16457789, essv16457790, essv16457788
SamplesNA18939, HG03279, HG01914, NA18488, HG03271
Known GenesBRD1, LOC90834
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648072
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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