A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6391145



Internal ID9368548
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 Flag1
Merged StatusS
Merged Variantsesv2672445
Supporting Variants
SamplesNA18597
Known GenesIRAK4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6391145
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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