A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629800



Internal ID7016621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66258090..66259308hg38UCSC Ensembl
Innerchr12:66258126..66259273hg38UCSC Ensembl
Outerchr12:66258055..66259344hg38UCSC Ensembl
chr12:66651870..66653088hg19UCSC Ensembl
Innerchr12:66651906..66653053hg19UCSC Ensembl
Outerchr12:66651835..66653124hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14517238
SamplesHG01374
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629800
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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