A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718259



Internal ID10301895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16103971..16104248hg38UCSC Ensembl
Outerchr19:16214781..16215058hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6820859, essv6947462, essv6792906, essv6674771, essv6703525, essv6804201, essv6725483, essv6892080, essv6868384, essv6950167, essv6852773, essv6710327, essv6758860, essv6797099
SamplesSSM059, SSM071, SSM024, SSM045, SSM097, SSM039, SSM073, SSM041, SSM089, SSM003, SSM031, SSM086, SSM078, SSM070
Known Genes
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)esv2718259
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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