A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671447



Internal ID9937552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121675152..121691738hg38UCSC Ensembl
chr12:122113058..122129644hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3816587
hg1916587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv321e199
Supporting Variantsessv5703331, essv6567484
SamplesHG00449, NA18961
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671447
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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