A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718478



Internal ID10302114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33757341..33757543hg38UCSC Ensembl
Outerchr19:34248246..34248448hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852807, essv6666460, essv6947784, essv6717844, essv6917125, essv6921360
SamplesSSM029, SSM017, SSM003, SSM086, SSM016, SSM043
Known GenesCHST8
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)esv2718478
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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