A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16404302



Internal ID6406119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31969894..32151343hg38UCSC Ensembl
Innerchr22:31970044..32151193hg38UCSC Ensembl
Outerchr22:31969744..32151493hg38UCSC Ensembl
chr22:32365881..32547330hg19UCSC Ensembl
Innerchr22:32366031..32547180hg19UCSC Ensembl
Outerchr22:32365731..32547480hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38181450
hg19181450
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647597
Supporting Variants
SamplesHG02661
Known GenesAP1B1P1, C22orf42, SLC5A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16404302
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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