A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629465



Internal ID6669605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49703483..49704695hg38UCSC Ensembl
Innerchr12:49703489..49704689hg38UCSC Ensembl
Outerchr12:49703477..49704701hg38UCSC Ensembl
chr12:50097266..50098478hg19UCSC Ensembl
Innerchr12:50097272..50098472hg19UCSC Ensembl
Outerchr12:50097260..50098484hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14477435, essv14477436, essv14477438, essv14477437
SamplesNA19147, NA18868, NA19235, HG03460
Known GenesFMNL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629465
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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