A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344655



Internal ID14844922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80793825..80793874hg38UCSC Ensembl
Innerchr7:80793841..80793858hg38UCSC Ensembl
Outerchr7:80793809..80793890hg38UCSC Ensembl
chr7:80423141..80423190hg19UCSC Ensembl
Innerchr7:80423157..80423174hg19UCSC Ensembl
Outerchr7:80423125..80423206hg19UCSC Ensembl
chr7:80261077..80261126hg18UCSC Ensembl
Innerchr7:80261093..80261110hg18UCSC Ensembl
Outerchr7:80261061..80261142hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676859
SamplesNA12891
Known GenesSEMA3C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344655
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