A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385376



Internal ID15232346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123606584..123606597hg38UCSC Ensembl
Innerchr12:123606586..123606595hg38UCSC Ensembl
Outerchr12:123606582..123606599hg38UCSC Ensembl
chr12:124091131..124091144hg19UCSC Ensembl
Innerchr12:124091133..124091142hg19UCSC Ensembl
Outerchr12:124091129..124091146hg19UCSC Ensembl
chr12:122657084..122657097hg18UCSC Ensembl
Innerchr12:122657086..122657095hg18UCSC Ensembl
Outerchr12:122657082..122657099hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865632
SamplesNA12005
Known GenesDDX55
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385376
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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