A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9659058



Internal ID13342179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92151959..92151978hg38UCSC Ensembl
Innerchr12:92151955..92151982hg38UCSC Ensembl
Outerchr12:92151936..92152001hg38UCSC Ensembl
chr12:92545735..92545754hg19UCSC Ensembl
Innerchr12:92545731..92545758hg19UCSC Ensembl
Outerchr12:92545712..92545777hg19UCSC Ensembl
chr12:91069866..91069885hg18UCSC Ensembl
Innerchr12:91069889..91069862hg18UCSC Ensembl
Outerchr12:91069843..91069908hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3429261
Supporting Variants
SamplesNA12043
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9659058
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer