A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10564679



Internal ID6782893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84124677..84133498hg38UCSC Ensembl
Innerchr2:84124827..84133348hg38UCSC Ensembl
Outerchr2:84124527..84133648hg38UCSC Ensembl
chr2:84351801..84360622hg19UCSC Ensembl
Innerchr2:84351951..84360472hg19UCSC Ensembl
Outerchr2:84351651..84360772hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg388822
hg198822
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591506
Supporting Variants
SamplesNA20882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10564679
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