A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667612



Internal ID9587031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68020186..68024660hg38UCSC Ensembl
chr3:68069330..68073805hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg384475
hg194476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6531087
SamplesHG01171
Known GenesFAM19A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667612
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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