A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678742



Internal ID9944847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123854680..123855404hg38UCSC Ensembl
chr9:126616959..126617683hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6171847, essv5933506, essv6304664, essv5722875, essv5620431, essv6474861, essv5636135, essv5686403, essv6361952, essv6577323, essv6078611, essv6010096, essv6361696, essv6231088, essv6319365, essv6484862, essv5648319, essv5612611
SamplesNA19394, NA19819, HG00737, HG01461, NA19920, HG01350, HG01366, NA19457, NA19130, NA19172, NA19189, HG01095, NA19236, NA18516, NA19395, NA19401, HG01125, NA18487
Known GenesDENND1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678742
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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