A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10830318



Internal ID832134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207223648..207231362hg38UCSC Ensembl
Innerchr2:207223666..207231345hg38UCSC Ensembl
Outerchr2:207223631..207231380hg38UCSC Ensembl
chr2:208088372..208096086hg19UCSC Ensembl
Innerchr2:208088390..208096069hg19UCSC Ensembl
Outerchr2:208088355..208096104hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387715
hg197715
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594081
Supporting Variants
SamplesNA18977
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10830318
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