A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718680



Internal ID9952972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48669596..48670292hg38UCSC Ensembl
Outerchr19:49172853..49173549hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713969, essv6717342
SamplesSSM006, SSM042
Known GenesNTN5, SEC1P
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)esv2718680
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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