A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715819



Internal ID9950106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31416436..31417657hg38UCSC Ensembl
Outerchr17:29743454..29744675hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381222
hg191222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717492, essv6688832, essv6852256
SamplesSSM035, SSM086, SSM043
Known GenesRAB11FIP4
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)esv2715819
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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