A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718839



Internal ID9953131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53742716..53742938hg38UCSC Ensembl
Outerchr19:54245970..54246192hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707080, essv6877483, essv6682605, essv6713986, essv6744769, essv6832335, essv6814976, essv6689096, essv6852859, essv6917183, essv6801361, essv6667310
SamplesSSM092, SSM053, SSM086, SSM033, SSM042, SSM040, SSM035, SSM072, SSM016, SSM009, SSM004, SSM081
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)esv2718839
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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