A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854504



Internal ID10252536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:83100471..83100615hg38UCSC Ensembl
Outerchr4:84021624..84021768hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727898, esv2727897
Supporting Variants
SamplesSSM087
Known GenesPLAC8
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)essv6854504
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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