A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413119



Internal ID14913392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18529114..18529133hg38UCSC Ensembl
Innerchr12:18529110..18529137hg38UCSC Ensembl
Outerchr12:18529091..18529156hg38UCSC Ensembl
chr12:18682048..18682067hg19UCSC Ensembl
Innerchr12:18682044..18682071hg19UCSC Ensembl
Outerchr12:18682025..18682090hg19UCSC Ensembl
chr12:18573315..18573334hg18UCSC Ensembl
Innerchr12:18573338..18573311hg18UCSC Ensembl
Outerchr12:18573292..18573357hg18UCSC Ensembl
Cytoband12p12.3
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 Variantsessv9655670
SamplesNA19141
Known GenesPIK3C2G
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413119
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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