A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954000



Internal ID10058398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47157114..47158139hg38UCSC Ensembl
Outerchr17:45234480..45235505hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715999, esv2715996
Supporting Variants
SamplesSSM025
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)essv6954000
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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