A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594067



Internal ID6981388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206404290..206412487hg38UCSC Ensembl
Innerchr2:206404307..206412470hg38UCSC Ensembl
Outerchr2:206404273..206412504hg38UCSC Ensembl
chr2:207269014..207277211hg19UCSC Ensembl
Innerchr2:207269031..207277194hg19UCSC Ensembl
Outerchr2:207268997..207277228hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388198
hg198198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10828693
SamplesHG01694
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594067
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