A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10412841



Internal ID4606555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13496232..13548329hg38UCSC Ensembl
Innerchr2:13496232..13548329hg38UCSC Ensembl
Outerchr2:13495732..13548829hg38UCSC Ensembl
chr2:13636357..13688454hg19UCSC Ensembl
Innerchr2:13636357..13688454hg19UCSC Ensembl
Outerchr2:13635857..13688954hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3852098
hg1952098
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589849
Supporting Variants
SamplesHG04141
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10412841
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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