A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590286



Internal ID6630573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33415480..33446957hg38UCSC Ensembl
Innerchr2:33415528..33446909hg38UCSC Ensembl
Outerchr2:33415432..33447005hg38UCSC Ensembl
chr2:33640547..33672024hg19UCSC Ensembl
Innerchr2:33640595..33671976hg19UCSC Ensembl
Outerchr2:33640499..33672072hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3831478
hg1931478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10451141, essv10451142
SamplesHG01813, HG01816
Known GenesRASGRP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590286
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer