A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718855



Internal ID10302491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54636957..54637371hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg19415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816366, essv6933022, essv6961076, essv6843597, essv6839719, essv6913729
SamplesSSM083, SSM084, SSM026, SSM020, SSM015, SSM077
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)esv2718855
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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