A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960494



Internal ID9716100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75558683..75559133hg38UCSC Ensembl
Outerchr17:73554764..73555214hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716242, esv2716241
Supporting Variants
SamplesSSM026
Known GenesLLGL2
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)essv6960494
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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