A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674209



Internal ID10089372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3868140..3868293hg38UCSC Ensembl
Outerchr17:3771434..3771587hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715539, esv2715534, esv2715537
Supporting Variants
SamplesSSM031
Known GenesCAMKK1
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)essv6674209
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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