A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590162



Internal ID6630449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28852562..28855988hg38UCSC Ensembl
Innerchr2:28852612..28855938hg38UCSC Ensembl
Outerchr2:28852436..28856114hg38UCSC Ensembl
chr2:29075428..29078854hg19UCSC Ensembl
Innerchr2:29075478..29078804hg19UCSC Ensembl
Outerchr2:29075302..29078980hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383427
hg193427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10438504, essv10438502, essv10438503
SamplesHG02545, NA19072, NA18876
Known GenesTRMT61B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590162
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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