A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909828



Internal ID9671007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52918867..52920896hg38UCSC Ensembl
Outerchr19:53422120..53424149hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg382030
hg192030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718804, esv2718787, esv2718796, esv2718799
Supporting Variants
SamplesSSM014
Known Genes
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)essv6909828
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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