A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851964



Internal ID9903563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7229447..7229742hg38UCSC Ensembl
Outerchr16:7279448..7279743hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750467, esv2750469, esv2750468, esv2750470
Supporting Variants
SamplesSSM086
Known GenesRBFOX1
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)essv6851964
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