A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689019



Internal ID10102221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1923695..1923894hg38UCSC Ensembl
Outerchr19:1923694..1923893hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717855, esv2717854
Supporting Variants
SamplesSSM035
Known GenesSCAMP4
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)essv6689019
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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