A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839294



Internal ID10239035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:13070280..13070700hg38UCSC Ensembl
Outerchr17:12973597..12974017hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715668
Supporting Variants
SamplesSSM083
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)essv6839294
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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