A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7841416



Internal ID13374798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102461473..102461474hg38UCSC Ensembl
Innerchr12:102461456..102461491hg38UCSC Ensembl
Outerchr12:102461455..102461492hg38UCSC Ensembl
chr12:102855251..102855252hg19UCSC Ensembl
Innerchr12:102855234..102855269hg19UCSC Ensembl
Outerchr12:102855233..102855270hg19UCSC Ensembl
chr12:101379381..101379382hg18UCSC Ensembl
Innerchr12:101379399..101379364hg18UCSC Ensembl
Outerchr12:101379363..101379400hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309220
Supporting Variants
SamplesNA12892
Known GenesIGF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7841416
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