A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16398885



Internal ID6400701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29283431..29285907hg38UCSC Ensembl
Innerchr22:29283448..29285891hg38UCSC Ensembl
Outerchr22:29283415..29285924hg38UCSC Ensembl
chr22:29679420..29681896hg19UCSC Ensembl
Innerchr22:29679437..29681880hg19UCSC Ensembl
Outerchr22:29679404..29681913hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647529
Supporting Variants
SamplesNA19235
Known GenesEWSR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16398885
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