A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718685



Internal ID9952977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48751602..48751870hg38UCSC Ensembl
Outerchr19:49254859..49255127hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852843, essv6804234, essv6863644, essv6937366, essv6947985
SamplesSSM073, SSM088, SSM021, SSM003, SSM086
Known GenesFUT1
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)esv2718685
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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