A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16443307



Internal ID4818199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45303989..45330146hg38UCSC Ensembl
Innerchr22:45304489..45329646hg38UCSC Ensembl
Outerchr22:45302989..45331146hg38UCSC Ensembl
chr22:45699870..45726027hg19UCSC Ensembl
Innerchr22:45700370..45725527hg19UCSC Ensembl
Outerchr22:45698870..45727027hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3826158
hg1926158
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647928
Supporting Variants
SamplesNA12005
Known GenesFAM118A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16443307
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