A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843493



Internal ID10242624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7870752..7871209hg38UCSC Ensembl
Outerchr19:7935638..7936095hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718111, esv2718110
Supporting Variants
SamplesSSM084
Known GenesFLJ22184
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)essv6843493
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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