A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718606



Internal ID9952898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43216531..43216907hg38UCSC Ensembl
Outerchr19:43720683..43721059hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925386, essv6717873, essv6928811, essv6917158, essv6717265
SamplesSSM018, SSM019, SSM006, SSM016, SSM043
Known GenesLOC284344
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)esv2718606
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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