A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398944



Internal ID14899221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31430032..31430061hg38UCSC Ensembl
Innerchr12:31430034..31430059hg38UCSC Ensembl
Outerchr12:31430030..31430063hg38UCSC Ensembl
chr12:31582966..31582995hg19UCSC Ensembl
Innerchr12:31582968..31582993hg19UCSC Ensembl
Outerchr12:31582964..31582997hg19UCSC Ensembl
chr12:31474233..31474262hg18UCSC Ensembl
Innerchr12:31474235..31474260hg18UCSC Ensembl
Outerchr12:31474231..31474264hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865560
SamplesNA12005
Known GenesDENND5B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398944
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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