A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716304



Internal ID10299940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78115723..78115828hg38UCSC Ensembl
Outerchr17:76111804..76111909hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868049, essv6858313, essv6966982, essv6909547, essv6852344, essv6863232, essv6820521, essv6674335
SamplesSSM027, SSM087, SSM088, SSM089, SSM031, SSM014, SSM086, SSM078
Known GenesTMC6
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)esv2716304
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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