A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715788



Internal ID9950075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28371599..28371666hg38UCSC Ensembl
Outerchr17:26698620..26698687hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674251
SamplesSSM031
Known GenesSARM1
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)esv2715788
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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