A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718267



Internal ID10301903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16874453..16875438hg38UCSC Ensembl
Outerchr19:16985264..16986249hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38986
hg19986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685903, essv6925341, essv6666410, essv6784631, essv6792907, essv6717818
SamplesSSM018, SSM029, SSM068, SSM070, SSM034, SSM043
Known GenesSIN3B
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)esv2718267
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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