A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10493360



Internal ID6672582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48400821..48403665hg38UCSC Ensembl
Innerchr2:48400871..48403616hg38UCSC Ensembl
Outerchr2:48400772..48403715hg38UCSC Ensembl
chr2:48627960..48630804hg19UCSC Ensembl
Innerchr2:48628010..48630755hg19UCSC Ensembl
Outerchr2:48627911..48630854hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382845
hg192845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590648
Supporting Variants
SamplesNA20810
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10493360
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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