A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444649



Internal ID14944915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51105585..51105622hg38UCSC Ensembl
Innerchr12:51105587..51105620hg38UCSC Ensembl
Outerchr12:51105583..51105624hg38UCSC Ensembl
chr12:51499368..51499405hg19UCSC Ensembl
Innerchr12:51499370..51499403hg19UCSC Ensembl
Outerchr12:51499366..51499407hg19UCSC Ensembl
chr12:49785635..49785672hg18UCSC Ensembl
Innerchr12:49785637..49785670hg18UCSC Ensembl
Outerchr12:49785633..49785674hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865576
SamplesNA12005
Known GenesTFCP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444649
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