A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6902188



Internal ID9664916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3605578..3606070hg38UCSC Ensembl
Outerchr19:3605576..3606068hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717950
Supporting Variants
SamplesSSM012
Known GenesTBXA2R
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)essv6902188
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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