A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647683



Internal ID6687737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36239324..36239966hg38UCSC Ensembl
Innerchr22:36239355..36239936hg38UCSC Ensembl
Outerchr22:36239294..36239997hg38UCSC Ensembl
chr22:36635370..36636012hg19UCSC Ensembl
Innerchr22:36635401..36635982hg19UCSC Ensembl
Outerchr22:36635340..36636043hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16414543, essv16414544, essv16414545
SamplesHG04229, NA18858, HG03109
Known GenesAPOL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647683
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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