A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6263343



Internal ID9240746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32299447..32303194hg38UCSC Ensembl
chr12:32452381..32456128hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677398
Supporting Variants
SamplesNA19453
Known GenesBICD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6263343
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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