A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307391



Internal ID15154339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96971752..96971753hg38UCSC Ensembl
Innerchr12:96971733..96971772hg38UCSC Ensembl
Outerchr12:96971732..96971773hg38UCSC Ensembl
chr12:97365530..97365531hg19UCSC Ensembl
Innerchr12:97365511..97365550hg19UCSC Ensembl
Outerchr12:97365510..97365551hg19UCSC Ensembl
chr12:95889661..95889662hg18UCSC Ensembl
Innerchr12:95889681..95889642hg18UCSC Ensembl
Outerchr12:95889641..95889682hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386041
hg196041
hg186041
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7813585, essv7801355, essv7783797, essv7802366, essv7790613, essv7817475
SamplesNA12717, NA12045, NA12750, NA12874, NA12006, NA07000
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307391
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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