A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715615



Internal ID9949902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8481098..8481290hg38UCSC Ensembl
Outerchr17:8384416..8384608hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863150, essv6858202, essv6743232, essv6747274, essv6839242, essv6960389, essv6966858, essv6852213
SamplesSSM027, SSM087, SSM088, SSM026, SSM086, SSM007, SSM010, SSM055
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)esv2715615
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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