A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6715266



Internal ID9995381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63863683..63887297hg38UCSC Ensembl
Outerchr17:61941043..61964657hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3823615
hg1923615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716098
Supporting Variants
SamplesSSM006
Known GenesCSH2, GH2, TCAM1P
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)essv6715266
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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