A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647773



Internal ID7034512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40196227..40203730hg38UCSC Ensembl
Innerchr22:40196232..40203726hg38UCSC Ensembl
Outerchr22:40196223..40203735hg38UCSC Ensembl
chr22:40592231..40599734hg19UCSC Ensembl
Innerchr22:40592236..40599730hg19UCSC Ensembl
Outerchr22:40592227..40599739hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg387504
hg197504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16429097, essv16429098, essv16429105, essv16429104, essv16429099, essv16429106, essv16429100, essv16429101, essv16429102, essv16429107, essv16429103
SamplesHG01773, HG00100, HG01308, NA19789, HG01515, NA12718, HG01323, HG01286, HG02220, NA07037, HG00553
Known GenesTNRC6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647773
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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