A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858672



Internal ID10256289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1368809..1368997hg38UCSC Ensembl
Outerchr19:1368808..1368996hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717842, esv2717841
Supporting Variants
SamplesSSM087
Known GenesMUM1
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)essv6858672
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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