A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717066



Internal ID10300702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48730124..48730940hg38UCSC Ensembl
Outerchr18:46256495..46257311hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38817
hg19817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv454e201
Supporting Variantsessv6809979, essv6863322, essv6784424, essv6971678, essv6937048, essv6772891, essv6666058, essv6717637, essv6779332, essv6843296, essv6715809, essv6812565, essv6804081, essv6732960, essv6780273, essv6741732, essv6776465, essv6967108, essv6954111, essv6902039, essv6885608, essv6682344, essv6824426
SamplesSSM008, SSM027, SSM075, SSM079, SSM065, SSM009, SSM073, SSM088, SSM028, SSM084, SSM021, SSM047, SSM029, SSM067, SSM033, SSM066, SSM006, SSM068, SSM095, SSM025, SSM043, SSM052, SSM012
Known GenesCTIF
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)esv2717066
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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