A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397844



Internal ID15244807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13165345..13165345hg38UCSC Ensembl
Innerchr12:13165344..13165346hg38UCSC Ensembl
Outerchr12:13165305..13165365hg38UCSC Ensembl
chr12:13318279..13318279hg19UCSC Ensembl
Innerchr12:13318278..13318280hg19UCSC Ensembl
Outerchr12:13318239..13318299hg19UCSC Ensembl
chr12:13209546..13209546hg18UCSC Ensembl
Innerchr12:13209547..13209545hg18UCSC Ensembl
Outerchr12:13209506..13209566hg18UCSC Ensembl
Cytoband12p13.1
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 Variantsessv8640645
Samples
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397844
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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