A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666481



Internal ID9932586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112541570..112541854hg38UCSC Ensembl
chr12:112979374..112979658hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6170512, essv5602434, essv6435640, essv6132516, essv6282152, essv5940185, essv5404579
SamplesNA20346, NA19917, NA19238, NA19657, NA18910, NA18871, NA19240
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666481
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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