A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667044



Internal ID4711378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41223763..41224698hg19UCSC Ensembl
Outerchr17:41223726..41224748hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5562286, essv5749609, essv6478594
SamplesNA19819, NA19374, NA19901
Known GenesBRCA1
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667044
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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