A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664283



Internal ID9583702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24158966..24159555hg38UCSC Ensembl
chr12:24311900..24312489hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5803363
SamplesHG00140
Known GenesSOX5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664283
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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