A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942429



Internal ID9989025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68133699..68136574hg38UCSC Ensembl
Outerchr15:68426037..68428912hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg382876
hg192876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749814
Supporting Variants
SamplesSSM003
Known GenesPIAS1
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)essv6942429
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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