A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715476



Internal ID9949762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1605968..1606365hg38UCSC Ensembl
Outerchr17:1509262..1509659hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703115, essv6960367, essv6784248
SamplesSSM039, SSM068, SSM026
Known GenesSLC43A2
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)esv2715476
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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