A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647768



Internal ID7034507
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16427866
SamplesHG03193
Known GenesGRAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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