A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647903



Internal ID6687956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44737925..44739035hg38UCSC Ensembl
Innerchr22:44737925..44739035hg38UCSC Ensembl
Outerchr22:44737780..44739226hg38UCSC Ensembl
chr22:45133805..45134915hg19UCSC Ensembl
Innerchr22:45133805..45134915hg19UCSC Ensembl
Outerchr22:45133660..45135106hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16437590
SamplesNA18948
Known GenesPRR5-ARHGAP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647903
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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