A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16449693



Internal ID4495557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48383190..48391657hg38UCSC Ensembl
Innerchr22:48383190..48391657hg38UCSC Ensembl
Outerchr22:48382958..48391847hg38UCSC Ensembl
chr22:48779002..48787469hg19UCSC Ensembl
Innerchr22:48779002..48787469hg19UCSC Ensembl
Outerchr22:48778770..48787659hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg388468
hg198468
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3648012
Supporting Variants
SamplesHG03998
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16449693
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