A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6871886



Internal ID10009743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47158325..47171864hg38UCSC Ensembl
Outerchr17:45235691..45249230hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3813540
hg1913540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716008, esv2716003, esv2716005, esv2716001
Supporting Variants
SamplesSSM011
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)essv6871886
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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