A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718943



Internal ID9953235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55032960..55033344hg38UCSC Ensembl
Outerchr19:55544328..55544712hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv539e201
Supporting Variantsessv6717916, essv6696762, essv6839728, essv6961092
SamplesSSM083, SSM026, SSM037, SSM043
Known GenesGP6
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)esv2718943
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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