A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715789



Internal ID9950076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28371642..28371846hg38UCSC Ensembl
Outerchr17:26698663..26698867hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800954, essv6721347, essv6920927, essv6835524, essv6780123
SamplesSSM017, SSM067, SSM044, SSM072, SSM082
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)esv2715789
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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