A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356433



Internal ID15203413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6949804..6950186hg38UCSC Ensembl
Innerchr12:6949804..6950186hg38UCSC Ensembl
Outerchr12:6948760..6950630hg38UCSC Ensembl
chr12:7058967..7059349hg19UCSC Ensembl
Innerchr12:7058967..7059349hg19UCSC Ensembl
Outerchr12:7057923..7059793hg19UCSC Ensembl
chr12:6929228..6929610hg18UCSC Ensembl
Innerchr12:6929228..6929610hg18UCSC Ensembl
Outerchr12:6928184..6930054hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38383
hg19383
hg18383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651862
SamplesNA19240
Known GenesPTPN6
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356433
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