A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749859



Internal ID9984143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71924937..71926048hg38UCSC Ensembl
Outerchr15:72217278..72218389hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741447, essv6665341, essv6869520, essv6940774, essv6776090
SamplesSSM011, SSM029, SSM066, SSM022, SSM052
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)esv2749859
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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