A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647723



Internal ID7034463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37960931..37962775hg38UCSC Ensembl
Innerchr22:37960939..37962767hg38UCSC Ensembl
Outerchr22:37960923..37962783hg38UCSC Ensembl
chr22:38356938..38358782hg19UCSC Ensembl
Innerchr22:38356946..38358774hg19UCSC Ensembl
Outerchr22:38356930..38358790hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381845
hg191845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16421217, essv16421219, essv16421216, essv16421215, essv16421218, essv16421214, essv16421220, essv16421213, essv16421211, essv16421212
SamplesHG02382, HG02155, HG01848, HG03830, HG02512, HG01852, HG02048, HG01866, HG02371, HG02113
Known GenesPOLR2F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647723
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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