A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718167



Internal ID9952458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9983312..9983849hg38UCSC Ensembl
Outerchr19:10093988..10094525hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921309, essv6666394
SamplesSSM017, SSM029
Known GenesCOL5A3
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)esv2718167
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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