A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590164



Internal ID6977493
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10438507, essv10438511, essv10438508, essv10438506, essv10438512, essv10438509, essv10438510
SamplesHG01083, HG01058, HG01104, HG01162, HG01102, NA19099, HG01302
Known GenesTRMT61B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590164
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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