A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594262



Internal ID6981582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214597918..214598484hg38UCSC Ensembl
Innerchr2:214597939..214598464hg38UCSC Ensembl
Outerchr2:214597898..214598505hg38UCSC Ensembl
chr2:215462642..215463208hg19UCSC Ensembl
Innerchr2:215462663..215463188hg19UCSC Ensembl
Outerchr2:215462622..215463229hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38567
hg19567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10843560
SamplesHG01699
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594262
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