A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672445



Internal ID9591864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43759592..43763533hg38UCSC Ensembl
Outerchr12:43759549..43763583hg38UCSC Ensembl
Innerchr12:44153395..44157336hg19UCSC Ensembl
Outerchr12:44153352..44157386hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384035
hg194035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv285e199
Supporting Variantsessv6391145
SamplesNA18597
Known GenesIRAK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672445
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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