A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16437993



Internal ID6439809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44739396..44741742hg38UCSC Ensembl
Innerchr22:44739396..44741742hg38UCSC Ensembl
Outerchr22:44738992..44742073hg38UCSC Ensembl
chr22:45135276..45137622hg19UCSC Ensembl
Innerchr22:45135276..45137622hg19UCSC Ensembl
Outerchr22:45134872..45137953hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382347
hg192347
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647905
Supporting Variants
SamplesHG02489
Known GenesPRR5-ARHGAP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16437993
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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