A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715526



Internal ID10299162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3306336..3307063hg38UCSC Ensembl
Outerchr17:3209630..3210357hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905508, essv6738325, essv6800930, essv6874123, essv6703118, essv6710022, essv6828349
SamplesSSM039, SSM013, SSM050, SSM041, SSM072, SSM080, SSM091
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)esv2715526
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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