A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630393



Internal ID7017212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93283208..93300625hg38UCSC Ensembl
Innerchr12:93283708..93300125hg38UCSC Ensembl
Outerchr12:93282208..93301625hg38UCSC Ensembl
chr12:93676984..93694401hg19UCSC Ensembl
Innerchr12:93677484..93693901hg19UCSC Ensembl
Outerchr12:93675984..93695401hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3817418
hg1917418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14570869
SamplesNA11840
Known GenesLOC643339
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630393
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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