A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718102



Internal ID9952393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7691757..7692072hg38UCSC Ensembl
Outerchr19:7756643..7756958hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv501e201
Supporting Variantsessv6674757, essv6685894, essv6696662, essv6717797, essv6725470
SamplesSSM045, 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)esv2718102
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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