A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344048



Internal ID14844315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118023772..118023791hg38UCSC Ensembl
Innerchr12:118023768..118023795hg38UCSC Ensembl
Outerchr12:118023749..118023814hg38UCSC Ensembl
chr12:118461577..118461596hg19UCSC Ensembl
Innerchr12:118461573..118461600hg19UCSC Ensembl
Outerchr12:118461554..118461619hg19UCSC Ensembl
chr12:116945960..116945979hg18UCSC Ensembl
Innerchr12:116945983..116945956hg18UCSC Ensembl
Outerchr12:116945937..116946002hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9659735
SamplesNA12814
Known GenesRFC5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344048
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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