A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10694584



Internal ID2945645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142490523..142494108hg38UCSC Ensembl
Innerchr2:142490532..142494099hg38UCSC Ensembl
Outerchr2:142490514..142494117hg38UCSC Ensembl
chr2:143248092..143251677hg19UCSC Ensembl
Innerchr2:143248101..143251668hg19UCSC Ensembl
Outerchr2:143248083..143251686hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg383586
hg193586
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592735
Supporting Variants
SamplesHG02601
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10694584
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