A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5691576



Internal ID9465729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8741162..8746554hg38UCSC Ensembl
chr12:8893758..8899150hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385393
hg195393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657220
Supporting Variants
SamplesNA18924
Known GenesRIMKLB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5691576
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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