A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16397313



Internal ID4127594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28169673..28204348hg38UCSC Ensembl
chr22:28565661..28600336hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3834676
hg1934676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647504
Supporting Variants
SamplesHG03742
Known GenesTTC28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16397313
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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