A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16402637



Internal ID5100270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30430807..30441761hg38UCSC Ensembl
Innerchr22:30430824..30441745hg38UCSC Ensembl
Outerchr22:30430791..30441778hg38UCSC Ensembl
chr22:30826794..30837748hg19UCSC Ensembl
Innerchr22:30826811..30837732hg19UCSC Ensembl
Outerchr22:30826778..30837765hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3810955
hg1910955
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647562
Supporting Variants
SamplesNA18553
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16402637
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