A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946182



Internal ID9706793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52592719..52594402hg38UCSC Ensembl
Outerchr19:53095972..53097655hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg381684
hg191684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718791, esv2718787, esv2718786
Supporting Variants
SamplesSSM023
Known Genes
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)essv6946182
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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