A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868355



Internal ID10265001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2730913..2730974hg38UCSC Ensembl
Outerchr19:2730911..2730972hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717909, esv2717910, esv2717911
Supporting Variants
SamplesSSM089
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)essv6868355
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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