A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718033



Internal ID10301669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4786519..4786714hg38UCSC Ensembl
Outerchr19:4786531..4786726hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967422, essv6960941, essv6909749, essv6666372, essv6863556, essv6858693, essv6888754, essv6689029, essv6696656, essv6839618, essv6703501, essv6885740, essv6873986
SamplesSSM083, SSM027, SSM011, SSM087, SSM039, SSM088, SSM029, SSM096, SSM026, SSM035, SSM014, SSM037, 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)esv2718033
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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