A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449789



Internal ID15296737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102337848..102337878hg38UCSC Ensembl
Innerchr12:102337809..102337917hg38UCSC Ensembl
Outerchr12:102337779..102337947hg38UCSC Ensembl
chr12:102731626..102731656hg19UCSC Ensembl
Innerchr12:102731587..102731695hg19UCSC Ensembl
Outerchr12:102731557..102731725hg19UCSC Ensembl
chr12:101255756..101255786hg18UCSC Ensembl
Innerchr12:101255825..101255717hg18UCSC Ensembl
Outerchr12:101255687..101255855hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865619
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449789
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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