A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647518



Internal ID6687573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28747820..28768079hg38UCSC Ensembl
Innerchr22:28748320..28767579hg38UCSC Ensembl
Outerchr22:28746820..28769079hg38UCSC Ensembl
chr22:29143808..29164067hg19UCSC Ensembl
Innerchr22:29144308..29163567hg19UCSC Ensembl
Outerchr22:29142808..29165067hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3820260
hg1920260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16397727
SamplesNA19323
Known GenesHSCB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647518
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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