A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715899



Internal ID9950186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39131347..39133849hg38UCSC Ensembl
Outerchr17:37287600..37290102hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382503
hg192503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721353, essv6966913
SamplesSSM027, SSM044
Known GenesPLXDC1
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)esv2715899
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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