A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16427866



Internal ID3600566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39911351..39915351hg38UCSC Ensembl
Innerchr22:39911351..39915351hg38UCSC Ensembl
Outerchr22:39911135..39915588hg38UCSC Ensembl
chr22:40307355..40311355hg19UCSC Ensembl
Innerchr22:40307355..40311355hg19UCSC Ensembl
Outerchr22:40307139..40311592hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647768
Supporting Variants
SamplesHG03193
Known GenesGRAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16427866
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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