A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6835514



Internal ID10235257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:13070274..13070712hg38UCSC Ensembl
Outerchr17:12973591..12974029hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715668
Supporting Variants
SamplesSSM082
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)essv6835514
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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