A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674757



Internal ID9742193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7691794..7692069hg38UCSC Ensembl
Outerchr19:7756680..7756955hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718100, esv2718103, esv2718102, esv2718101
Supporting Variants
SamplesSSM031
Known GenesFCER2
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)essv6674757
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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