A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718899



Internal ID9953191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19_KI270938v1_alt:675111..675244hg38UCSC Ensembl
Outerchr19:55203997..55204143hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38134
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv533e201
Supporting Variantsessv6674864, essv6868472, essv6852867, essv6863677
SamplesSSM088, SSM089, SSM031, SSM086
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)esv2718899
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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