A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715504



Internal ID10299140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2693414..2693865hg38UCSC Ensembl
Outerchr17:2596708..2597159hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6901897, essv6949760, essv6717454, essv6776316, essv6796708, essv6800927, essv6971514
SamplesSSM071, SSM024, SSM028, SSM066, SSM072, SSM043, SSM012
Known GenesCLUH
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)esv2715504
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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