A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16397728



Internal ID5133851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28751582..28752604hg38UCSC Ensembl
Innerchr22:28751644..28752542hg38UCSC Ensembl
Outerchr22:28751520..28752666hg38UCSC Ensembl
chr22:29147570..29148592hg19UCSC Ensembl
Innerchr22:29147632..29148530hg19UCSC Ensembl
Outerchr22:29147508..29148654hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647519
Supporting Variants
SamplesNA18567
Known GenesHSCB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16397728
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer