A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716193



Internal ID9950481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73192849..73192921hg38UCSC Ensembl
Outerchr17:71188988..71189060hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858296, essv6852323
SamplesSSM087, SSM086
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)esv2716193
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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