A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647914



Internal ID7034653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44932406..44934730hg38UCSC Ensembl
Innerchr22:44932453..44934683hg38UCSC Ensembl
Outerchr22:44932359..44934777hg38UCSC Ensembl
chr22:45328286..45330610hg19UCSC Ensembl
Innerchr22:45328333..45330563hg19UCSC Ensembl
Outerchr22:45328239..45330657hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382325
hg192325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16440479
SamplesHG01326
Known GenesPHF21B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647914
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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