A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10832804



Internal ID6827819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207851642..207853301hg38UCSC Ensembl
Innerchr2:207851680..207853264hg38UCSC Ensembl
Outerchr2:207851605..207853339hg38UCSC Ensembl
chr2:208716366..208718025hg19UCSC Ensembl
Innerchr2:208716404..208717988hg19UCSC Ensembl
Outerchr2:208716329..208718063hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594101
Supporting Variants
SamplesNA20902
Known GenesPLEKHM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10832804
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