A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716239



Internal ID9950527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75546594..75546795hg38UCSC Ensembl
Outerchr17:73542675..73542876hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665890, essv6960493, essv6868036, essv6820510, essv6858303, essv6863224, essv6674326, essv6966975, essv6852333
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078
Known GenesLLGL2
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)esv2716239
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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