A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv846e201



Internal ID22760204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83100471..83100668hg38UCSC Ensembl
chr4:84021624..84021821hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2727900, esv2727898
SamplesSSM087, SSM031, SSM067
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)dgv846e201
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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