A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715966



Internal ID9950253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44848459..44848756hg38UCSC Ensembl
Outerchr17:42925827..42926124hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925004, essv6703172
SamplesSSM039, SSM018
Known GenesHIGD1B
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)esv2715966
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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