A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677433



Internal ID9943538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40694936..40699414hg38UCSC Ensembl
Outerchr22:40694899..40699464hg38UCSC Ensembl
Innerchr22:41090940..41095418hg19UCSC Ensembl
Outerchr22:41090903..41095468hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg384566
hg194566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6332939
SamplesNA19082
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677433
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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