A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696233



Internal ID10107882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:949132..949670hg38UCSC Ensembl
Outerchr17:852372..852910hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715391
Supporting Variants
SamplesSSM037
Known GenesNXN
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)essv6696233
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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