A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673292



Internal ID9592711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112865584..112865796hg38UCSC Ensembl
chr12:113303389..113303601hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5765037, essv6206478, essv5457158, essv6545547, essv5563731, essv5428784, essv6516633, essv5680559, essv5466818, essv5892170, essv5526980, essv6149871, essv6459134, essv5926774, essv5858825, essv5718078, essv5598803
SamplesNA19312, NA12154, NA18874, NA19467, NA19438, NA20340, NA12414, NA19107, NA19396, NA19397, NA18916, NA19377, NA07346, NA20348, NA19384, NA18504, NA19171
Known GenesRPH3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673292
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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