A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718258



Internal ID9952549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16069382..16069635hg38UCSC Ensembl
Outerchr19:16180192..16180445hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678850, essv6828707, essv6692433
SamplesSSM036, SSM032, SSM080
Known GenesTPM4
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)esv2718258
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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