A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960389



Internal ID9716005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8481131..8481248hg38UCSC Ensembl
Outerchr17:8384449..8384566hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715615, esv2715614
Supporting Variants
SamplesSSM026
Known GenesMYH10
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)essv6960389
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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