A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804003



Internal ID9858792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:59879662..59879962hg38UCSC Ensembl
Outerchr17:57957023..57957323hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716085
Supporting Variants
SamplesSSM073
Known GenesTUBD1
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)essv6804003
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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