A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718100



Internal ID9952391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7691702..7692073hg38UCSC Ensembl
Outerchr19:7756588..7756959hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv501e201
Supporting Variantsessv6937280, essv6674757, essv6685894, essv6696662, essv6717797, essv6725470
SamplesSSM045, SSM021, SSM031, SSM037, SSM034, SSM043
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)esv2718100
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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