A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6665814



Internal ID10079382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34838447..34838540hg38UCSC Ensembl
Outerchr17:33165466..33165559hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715868, esv2715867
Supporting Variants
SamplesSSM029
Known Genes
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)essv6665814
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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