A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718687



Internal ID9952979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48756494..48756694hg38UCSC Ensembl
Outerchr19:49259751..49259951hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685938, essv6913712
SamplesSSM034, SSM015
Known GenesFGF21
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)esv2718687
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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