A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349042



Internal ID14849307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63555264..63555283hg38UCSC Ensembl
Innerchr3:63555260..63555287hg38UCSC Ensembl
Outerchr3:63555241..63555306hg38UCSC Ensembl
chr3:63540940..63540959hg19UCSC Ensembl
Innerchr3:63540936..63540963hg19UCSC Ensembl
Outerchr3:63540917..63540982hg19UCSC Ensembl
chr3:63515980..63515999hg18UCSC Ensembl
Innerchr3:63516003..63515976hg18UCSC Ensembl
Outerchr3:63515957..63516022hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9610036, essv9610025, essv9610047, essv9610091, essv9610080, essv9610058, essv9610069
SamplesNA12249, NA12815, NA11931, NA12873, NA07346, NA12872, NA12812
Known GenesSYNPR
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349042
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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