A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629407



Internal ID6669547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46640144..46641703hg38UCSC Ensembl
Innerchr12:46640146..46641702hg38UCSC Ensembl
Outerchr12:46640143..46641705hg38UCSC Ensembl
chr12:47033927..47035486hg19UCSC Ensembl
Innerchr12:47033929..47035485hg19UCSC Ensembl
Outerchr12:47033926..47035488hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14474586, essv14474584, essv14474585, essv14474587, essv14474588, essv14474589
SamplesHG00864, HG01029, HG01812, HG02121, HG01866, HG02079
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629407
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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