A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590259



Internal ID6630546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32683089..32687087hg38UCSC Ensembl
Innerchr2:32683139..32687037hg38UCSC Ensembl
Outerchr2:32682962..32687214hg38UCSC Ensembl
chr2:32908156..32912154hg19UCSC Ensembl
Innerchr2:32908206..32912104hg19UCSC Ensembl
Outerchr2:32908029..32912281hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383999
hg193999
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447735
SamplesNA19678
Known GenesTTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590259
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