A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877498



Internal ID10273229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55527449..55527975hg38UCSC Ensembl
Outerchr19:56038816..56039342hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718977, esv2718978
Supporting Variants
SamplesSSM092
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)essv6877498
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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