A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874842



Internal ID9663752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55204020..55204621hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718901, esv2718896, esv2718872, esv2718903, esv2718893
Supporting Variants
SamplesSSM011
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)essv6874842
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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