A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16394402



Internal ID6396218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24922723..24985586hg38UCSC Ensembl
Innerchr22:24922873..24985436hg38UCSC Ensembl
Outerchr22:24922573..24985736hg38UCSC Ensembl
chr22:25318690..25381553hg19UCSC Ensembl
Innerchr22:25318840..25381403hg19UCSC Ensembl
Outerchr22:25318540..25381703hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3862864
hg1962864
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647445
Supporting Variants
SamplesHG01134
Known GenesSGSM1, TMEM211
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16394402
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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