A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852213



Internal ID9903787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8481136..8481211hg38UCSC Ensembl
Outerchr17:8384454..8384529hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715615, esv2715614, esv2715616
Supporting Variants
SamplesSSM086
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)essv6852213
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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