A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10383030



Internal ID2319442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12385..18842hg38UCSC Ensembl
Innerchr2:12385..18842hg38UCSC Ensembl
Outerchr2:11885..19342hg38UCSC Ensembl
chr2:12385..18842hg19UCSC Ensembl
Innerchr2:12385..18842hg19UCSC Ensembl
Outerchr2:11885..19342hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg386458
hg196458
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589586
Supporting Variants
SamplesHG02067
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10383030
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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