A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10438512



Internal ID5722775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28862504..28864445hg38UCSC Ensembl
Innerchr2:28862504..28864445hg38UCSC Ensembl
Outerchr2:28862215..28864675hg38UCSC Ensembl
chr2:29085370..29087311hg19UCSC Ensembl
Innerchr2:29085370..29087311hg19UCSC Ensembl
Outerchr2:29085081..29087541hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590164
Supporting Variants
SamplesNA19099
Known GenesTRMT61B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10438512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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