A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718419



Internal ID10302055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29695427..29696812hg38UCSC Ensembl
Outerchr19:30186334..30187719hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971937, essv6937326, essv6666450, essv6781543
SamplesSSM008, SSM028, SSM021, SSM029
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)esv2718419
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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