A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717067



Internal ID10300703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48730150..48730763hg38UCSC Ensembl
Outerchr18:46256521..46257134hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717637, essv6732960, essv6824426
SamplesSSM079, SSM047, SSM043
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)esv2717067
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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