A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719035



Internal ID10302671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56339498..56339781hg38UCSC Ensembl
Outerchr19:56850867..56851150hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674890, essv6788891, essv6885811, essv6852881, essv6666575
SamplesSSM069, SSM029, SSM031, SSM086, SSM095
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)esv2719035
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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