A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628767



Internal ID7015590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19605671..19619408hg38UCSC Ensembl
Innerchr12:19605720..19619359hg38UCSC Ensembl
Outerchr12:19605622..19619457hg38UCSC Ensembl
chr12:19758605..19772342hg19UCSC Ensembl
Innerchr12:19758654..19772293hg19UCSC Ensembl
Outerchr12:19758556..19772391hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3813738
hg1913738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14401404
SamplesNA19350
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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