A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715808



Internal ID9950095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30221404..30221564hg38UCSC Ensembl
Outerchr17:28548422..28548582hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696279, essv6945720
SamplesSSM037, SSM023
Known GenesSLC6A4
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)esv2715808
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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