A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702848



Internal ID10114689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:47428449..47428661hg38UCSC Ensembl
Outerchr15:47720646..47720858hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749654, esv2749655
Supporting Variants
SamplesSSM039
Known GenesSEMA6D
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)essv6702848
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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