A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647779



Internal ID7034518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40598739..40600719hg38UCSC Ensembl
Innerchr22:40598740..40600719hg38UCSC Ensembl
Outerchr22:40598739..40600720hg38UCSC Ensembl
chr22:40994743..40996723hg19UCSC Ensembl
Innerchr22:40994744..40996723hg19UCSC Ensembl
Outerchr22:40994743..40996724hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381981
hg191981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430036
SamplesHG01883
Known GenesMKL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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