A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16413517



Internal ID6415333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35887115..35891633hg38UCSC Ensembl
Innerchr22:35887115..35891633hg38UCSC Ensembl
Outerchr22:35886996..35891747hg38UCSC Ensembl
chr22:36283162..36287680hg19UCSC Ensembl
Innerchr22:36283162..36287680hg19UCSC Ensembl
Outerchr22:36283043..36287794hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg384519
hg194519
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647674
Supporting Variants
SamplesHG02006
Known GenesRBFOX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16413517
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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