A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913728



Internal ID9677662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53690595..53698147hg38UCSC Ensembl
Outerchr19:54193849..54201401hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387553
hg197553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718833, esv2718812, esv2718834
Supporting Variants
SamplesSSM015
Known GenesMIR519B, MIR520A, MIR525, MIR526B
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)essv6913728
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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