A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647520



Internal ID7034261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28752268..28753347hg38UCSC Ensembl
Innerchr22:28752316..28753300hg38UCSC Ensembl
Outerchr22:28752221..28753395hg38UCSC Ensembl
chr22:29148256..29149335hg19UCSC Ensembl
Innerchr22:29148304..29149288hg19UCSC Ensembl
Outerchr22:29148209..29149383hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16397729
SamplesNA18608
Known GenesHSCB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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