A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6703580



Internal ID9770000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47490316..47490700hg38UCSC Ensembl
Outerchr19:47993573..47993957hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718664
Supporting Variants
SamplesSSM039
Known GenesNAPA, NAPA-AS1
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)essv6703580
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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