A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718225



Internal ID9952516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15173671..15173813hg38UCSC Ensembl
Outerchr19:15284482..15284624hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932926, essv6792902
SamplesSSM020, SSM070
Known GenesNOTCH3
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)esv2718225
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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