A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659095



Internal ID9578514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31483914..31484455hg38UCSC Ensembl
Outerchr12:31483877..31484505hg38UCSC Ensembl
Innerchr12:31636848..31637389hg19UCSC Ensembl
Outerchr12:31636811..31637439hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5755180, essv5856703, essv5841480
SamplesNA19085, NA18572, HG00595
Known GenesDENND5B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659095
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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