A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10438505



Internal ID2212175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28857415..28864333hg38UCSC Ensembl
Innerchr2:28857462..28864287hg38UCSC Ensembl
Outerchr2:28857369..28864380hg38UCSC Ensembl
chr2:29080281..29087199hg19UCSC Ensembl
Innerchr2:29080328..29087153hg19UCSC Ensembl
Outerchr2:29080235..29087246hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg386919
hg196919
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590163
Supporting Variants
SamplesHG01989
Known GenesTRMT61B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10438505
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