A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675389



Internal ID9941494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104452864..104454123hg38UCSC Ensembl
chr12:104846642..104847901hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381260
hg191260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5930629, essv5490638, essv6104493, essv5542740, essv6252530, essv6056307, essv5678289, essv5531922, essv5799740, essv5632567, essv6489370, essv6488944, essv6300002, essv6011774, essv5764352, essv6364996, essv5884063, essv6153194, essv5751861, essv6171937, essv5395765, essv5870306, essv5771727
SamplesNA20761, NA20508, HG00306, HG00151, NA20802, HG00640, HG01051, HG01492, HG01354, NA19457, NA19904, HG00158, HG01134, HG00236, HG00118, HG01048, HG00137, HG00133, NA12342, NA19655, HG01342, HG00377, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675389
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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