A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6803789



Internal ID10205692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:60815991..60816530hg38UCSC Ensembl
Outerchr15:61108190..61108729hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749756
Supporting Variants
SamplesSSM073
Known GenesRORA
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)essv6803789
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