A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6080276



Internal ID8733063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:69356146..69362628hg38UCSC Ensembl
Outerchr3:69356109..69362678hg38UCSC Ensembl
Innerchr3:69405297..69411779hg19UCSC Ensembl
Outerchr3:69405260..69411829hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg386570
hg196570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675880
Supporting Variants
SamplesHG00119
Known GenesFRMD4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6080276
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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