A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674337



Internal ID9742571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78476244..78476334hg38UCSC Ensembl
Outerchr17:76472326..76472416hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716313, esv2716312
Supporting Variants
SamplesSSM031
Known GenesDNAH17
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)essv6674337
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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