A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10673852



Internal ID5908253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131136153..131137228hg38UCSC Ensembl
Innerchr2:131136153..131137228hg38UCSC Ensembl
Outerchr2:131135794..131137552hg38UCSC Ensembl
chr2:131893726..131894801hg19UCSC Ensembl
Innerchr2:131893726..131894801hg19UCSC Ensembl
Outerchr2:131893367..131895125hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592463
Supporting Variants
SamplesNA19321
Known GenesPLEKHB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10673852
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