A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966912



Internal ID10072630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37678357..37678414hg38UCSC Ensembl
Outerchr17:36038361..36038418hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715891, esv2715890
Supporting Variants
SamplesSSM027
Known Genes
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)essv6966912
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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