A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702849



Internal ID9768004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:49860910..49861302hg38UCSC Ensembl
Outerchr15:50153107..50153499hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749673
Supporting Variants
SamplesSSM039
Known GenesATP8B4
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)essv6702849
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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