A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647782



Internal ID7034521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40751321..40768573hg38UCSC Ensembl
Innerchr22:40751335..40768559hg38UCSC Ensembl
Outerchr22:40751307..40768587hg38UCSC Ensembl
chr22:41147325..41164577hg19UCSC Ensembl
Innerchr22:41147339..41164563hg19UCSC Ensembl
Outerchr22:41147311..41164591hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3817253
hg1917253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430041, essv16430043, essv16430042, essv16430040
SamplesHG01961, HG01970, HG01982, HG02089
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647782
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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