A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326619



Internal ID15173602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47470397..47470409hg38UCSC Ensembl
Innerchr15:47470388..47470415hg38UCSC Ensembl
Outerchr15:47470376..47470427hg38UCSC Ensembl
chr15:47762594..47762606hg19UCSC Ensembl
Innerchr15:47762585..47762612hg19UCSC Ensembl
Outerchr15:47762573..47762624hg19UCSC Ensembl
chr15:45549886..45549898hg18UCSC Ensembl
Innerchr15:45549904..45549877hg18UCSC Ensembl
Outerchr15:45549865..45549916hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8968216, essv8968213, essv8968211, essv8968210, essv8968217, essv8968215, essv8968212
SamplesNA18507, NA18856, NA19099, NA19225, NA18523, NA19093, NA18505
Known GenesSEMA6D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326619
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