A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715971



Internal ID10299607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45349852..45349999hg38UCSC Ensembl
Outerchr17:43427218..43427365hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858263, essv6966926, essv6674275
SamplesSSM027, SSM087, SSM031
Known Genes
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)esv2715971
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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