A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16430327



Internal ID4325786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41806119..41807712hg38UCSC Ensembl
Innerchr22:41806149..41807683hg38UCSC Ensembl
Outerchr22:41806090..41807742hg38UCSC Ensembl
chr22:42202123..42203716hg19UCSC Ensembl
Innerchr22:42202153..42203687hg19UCSC Ensembl
Outerchr22:42202094..42203746hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647804
Supporting Variants
SamplesHG03871
Known GenesCCDC134
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16430327
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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