A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16397729



Internal ID5186042
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647520
Supporting Variants
SamplesNA18608
Known GenesHSCB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16397729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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