A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6718263



Internal ID9786403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161549733..161631165hg38UCSC Ensembl
Outerchr1:161519523..161600955hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881433
hg1981433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718873
Supporting Variants
SamplesSSM044
Known GenesFCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6718263
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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