A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10421811



Internal ID423627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18553483..18559483hg38UCSC Ensembl
Innerchr2:18553483..18559483hg38UCSC Ensembl
Outerchr2:18552983..18559983hg38UCSC Ensembl
chr2:18734749..18740749hg19UCSC Ensembl
Innerchr2:18734749..18740749hg19UCSC Ensembl
Outerchr2:18734249..18741249hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589966
Supporting Variants
SamplesNA19172
Known GenesNT5C1B-RDH14, RDH14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10421811
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