A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16375188



Internal ID6377004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22432489..22905103hg38UCSC Ensembl
Innerchr22:22432489..22905103hg38UCSC Ensembl
Outerchr22:22432308..22905427hg38UCSC Ensembl
chr22:22786827..23247283hg19UCSC Ensembl
Innerchr22:22786827..23247283hg19UCSC Ensembl
Outerchr22:22786646..23247597hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38472615
hg19460457
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647366
Supporting Variants
SamplesNA19834
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16375188
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