A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6692233



Internal ID10105505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82983943..82984534hg38UCSC Ensembl
Outerchr17:80941819..80942410hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716586
Supporting Variants
SamplesSSM036
Known GenesB3GNTL1
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)essv6692233
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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