A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6901129



Internal ID10293686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47172061..47189088hg38UCSC Ensembl
Outerchr17:45249427..45266454hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3817028
hg1917028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716009
Supporting Variants
SamplesSSM100
Known GenesCDC27
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)essv6901129
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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