A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647867



Internal ID7034606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43428170..43431759hg38UCSC Ensembl
Innerchr22:43428190..43431739hg38UCSC Ensembl
Outerchr22:43428150..43431779hg38UCSC Ensembl
chr22:43824176..43827762hg19UCSC Ensembl
Innerchr22:43824196..43827742hg19UCSC Ensembl
Outerchr22:43824156..43827782hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383590
hg193587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16435712
SamplesHG04211
Known GenesMPPED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647867
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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