A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946192



Internal ID9706872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53690623..53698209hg38UCSC Ensembl
Outerchr19:54193877..54201463hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387587
hg197587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718833, esv2718812, esv2718834
Supporting Variants
SamplesSSM023
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)essv6946192
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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