A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869520



Internal ID9661656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71925213..71925324hg38UCSC Ensembl
Outerchr15:72217554..72217665hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749859, esv2749860, esv2749861
Supporting Variants
SamplesSSM011
Known GenesMYO9A
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)essv6869520
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