A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753011



Internal ID9814244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9226136..9226742hg38UCSC Ensembl
Outerchr17:9129453..9130059hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715626
Supporting Variants
SamplesSSM057
Known GenesNTN1
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)essv6753011
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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