A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843158



Internal ID9895636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27703415..27703566hg38UCSC Ensembl
Outerchr17:26030441..26030592hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715782, esv2715783, esv2715781
Supporting Variants
SamplesSSM084
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)essv6843158
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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