A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6665290



Internal ID10077331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:47428540..47428669hg38UCSC Ensembl
Outerchr15:47720737..47720866hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749654, esv2749655
Supporting Variants
SamplesSSM029
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)essv6665290
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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