A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647295



Internal ID7034036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20572432..20574550hg38UCSC Ensembl
Innerchr22:20572458..20574524hg38UCSC Ensembl
Outerchr22:20572406..20574576hg38UCSC Ensembl
chr22:20926719..20928837hg19UCSC Ensembl
Innerchr22:20926745..20928811hg19UCSC Ensembl
Outerchr22:20926693..20928863hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382119
hg192119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370134
SamplesHG03391
Known GenesMED15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647295
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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