A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424069



Internal ID15271026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96083432..96083453hg38UCSC Ensembl
Innerchr7:96083437..96083448hg38UCSC Ensembl
Outerchr7:96083416..96083469hg38UCSC Ensembl
chr7:95712744..95712765hg19UCSC Ensembl
Innerchr7:95712749..95712760hg19UCSC Ensembl
Outerchr7:95712728..95712781hg19UCSC Ensembl
chr7:95550680..95550701hg18UCSC Ensembl
Innerchr7:95550696..95550685hg18UCSC Ensembl
Outerchr7:95550664..95550717hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8936622, essv8936621, essv8936618, essv8936619, essv8936623, essv8936620, essv8936617
SamplesNA18861, NA18504, NA19172, NA18871, NA19147, NA18501, NA19102
Known GenesDYNC1I1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424069
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