A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6186734



Internal ID9164138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132801861..132847994hg38UCSC Ensembl
chr12:133378447..133424580hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3846134
hg1946134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661448
Supporting Variants
SamplesNA20503
Known GenesCHFR, GOLGA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6186734
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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